Musculoskeletal System - Muscle Development

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Endochondral bone

Introduction

There are 3 main different types of muscle: skeletal, cardiac and smooth. This page describes skeletal muscle development, descriptions of cardiac muscle and smooth muscle development can be found in other notes. Skeletal muscle forms by fusion of mononucleated myoblasts to form mutinucleated myotubes.


There are more than 640 skeletal muscles in the adult human body.


Differentiation/determination of mesoderm into muscle cells is thought to involve a family of basic Helix-Loop-Helix transcription factors, the first of which discovered was MyoD1. MyoD1 needs to form a dimer to be active and is maintained in an inactive state by binding of an inhibitor, Id.


Specific Skeletal Muscles: tongue | diaphragm


Musculoskeletal Links: Introduction | mesoderm | somitogenesis | limb | cartilage | bone | bone timeline | shoulder | pelvis | axial skeleton | skull | joint | skeletal muscle | muscle timeline | tendon | diaphragm | Lecture - Musculoskeletal | Lecture Movie | musculoskeletal abnormalities | limb abnormalities | developmental hip dysplasia | cartilage histology | bone histology | Skeletal Muscle Histology | Category:Musculoskeletal
Historic Musculoskeletal Embryology  
1853 Bone | 1885 Sphenoid | 1902 - Pubo-femoral Region | Spinal Column and Back | Body Segmentation | Cranium | Body Wall, Ribs, and Sternum | Limbs | 1901 - Limbs | 1902 - Arm Development | 1906 Human Embryo Ossification | 1906 Lower limb Nerves and Muscle | 1907 - Muscular System | Skeleton and Limbs | 1908 Vertebra | 1908 Cervical Vertebra | 1909 Mandible | 1910 - Skeleton and Connective Tissues | Muscular System | Coelom and Diaphragm | 1913 Clavicle | 1920 Clavicle | 1921 - External body form | Connective tissues and skeletal | Muscular | Diaphragm | 1929 Rat Somite | 1932 Pelvis | 1940 Synovial Joints | 1943 Human Embryonic, Fetal and Circumnatal Skeleton | 1947 Joints | 1949 Cartilage and Bone | 1957 Chondrification Hands and Feet | 1968 Knee

Some Recent Findings

  • Hitherto unknown detailed muscle anatomy in an 8-week-old embryo[1] "Human embryo at Carnegie embryo 950 stage 23 (8 weeks of development, crown-rump length of 23.8 mm), using Amira reconstruction software. Reconstructed muscles, tendons, bones and nerves were exported in a 3D-PDF file to permit interactive viewing. Almost all adult skeletal muscles of the trunk and limbs could be individually identified in their relative adult position. The pectoralis major muscle was divided in three separate muscle heads. The reconstructions showed remarkable highly developed extraocular, infrahyoid and suprahyoid muscles at this age but surprisingly also absence of the facial muscles that have been described to be present at this stage of development. The overall stage of muscle development suggests heterochrony of skeletal muscle development. Several individual muscle groups were found to be developed earlier and in more detail than described in current literature."
  • Review - Making muscle: skeletal myogenesis in vivo and in vitro[2] "In this Review, we provide a comprehensive overview of skeletal myogenesis from the earliest premyogenic progenitor stage to terminally differentiated myofibers, and discuss how this knowledge has been applied to differentiate PSCs into muscle fibers and their progenitors in vitro."
  • Development of the ventral body wall in the human embryo[3] "Initially, vertebrae and ribs had formed medially, and primordia of sternum and hypaxial flank muscle primordium laterally in the body wall at Carnegie Stage (CS)15 (5.5 weeks). The next week, ribs and muscle primordium expanded in ventrolateral direction only. At CS18 (6.5 weeks), separate intercostal and abdominal wall muscles differentiated, and ribs, sterna, and muscles began to expand ventromedially and caudally, with the bilateral sternal bars fusing in the midline after CS20 (7 weeks) and the rectus muscles reaching the umbilicus at CS23 (8 weeks). The near-constant absolute distance between both rectus muscles and approximately fivefold decline of this distance relative to body circumference between 6 and 10 weeks identified dorsoventral growth in the dorsal body wall as determinant of the 'closure' of the ventral body wall. Concomitant with the straightening of the embryonic body axis after the 6th week, the abdominal muscles expanded ventrally and caudally to form the infraumbilical body wall. Our data, therefore, show that the ventral body wall is formed by differential dorsoventral growth in the dorsal part of the body."
More recent papers  
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This table shows an automated computer PubMed search using the listed sub-heading term.

  • Therefore the list of references do not reflect any editorial selection of material based on content or relevance.
  • References appear in this list based upon the date of the actual page viewing.

References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.

Links: References | Discussion Page | Pubmed Most Recent | Journal Searches


Search term: Muscle Development

Keisuke Shibata, Kazuki Takizawa, Kazunori Nosaka, Masao Mizuno Effects of Prolonging Eccentric Phase Duration in Parallel Back-Squat Training to Momentary Failure on Muscle Cross-Sectional Area, Squat One Repetition Maximum, and Performance Tests in University Soccer Players. J Strength Cond Res: 2018; PubMed 30325791

Samantha C Butler, Anjali Sadhwani, Christian Stopp, Jayne Singer, David Wypij, Carolyn Dunbar-Masterson, Janice Ware, Jane W Newburger Neurodevelopmental assessment of infants with congenital heart disease in the early postoperative period. Congenit Heart Dis: 2018; PubMed 30324749

Luciana da C Oliveira, Gustavo P de Morais, Alisson L da Rocha, Giovana R Teixeira, Ana P Pinto, Larissa G de Vicente, José R Pauli, Leandro P de Moura, Rania A Mekary, Eduardo R Ropelle, Dennys E Cintra, Adelino S R da Silva Excessive treadmill training enhances the insulin signaling pathway and glycogen deposition in mice hearts. J. Cell. Biochem.: 2018; PubMed 30324688

Sandor Koszegi, Agnes Molnar, Lilla Lenart, Judit Hodrea, Dora Bianka Balogh, Tamas Lakat, Edgar Szkibinszkij, Adam Hosszu, Nadja Sparding, Federica Genovese, Laszlo Wagner, Adam Vannay, Attila J Szabo, Andrea Fekete RAAS inhibitors directly reduce diabetes-induced Renal fibrosis via PDGF and CTGF inhibition. J. Physiol. (Lond.): 2018; PubMed 30324679

Satoshi Nakamura, Yuiko Sato, Tami Kobayashi, Takatsugu Oike, Yosuke Kaneko, Kana Miyamoto, Atsushi Funayama, Akihito Oya, Toru Nishiwaki, Morio Matsumoto, Masaya Nakamura, Arihiko Kanaji, Takeshi Miyamoto Insulin-like growth factor-I is required to maintain muscle volume in adult mice. J. Bone Miner. Metab.: 2018; PubMed 30324536

Older papers  
  • Tbx15 controls skeletal muscle fibre-type determination and muscle metabolism[4] "Skeletal muscle is composed of both slow-twitch oxidative myofibers and fast-twitch glycolytic myofibers that differentially impact muscle metabolism, function and eventually whole-body physiology. Here we show that the mesodermal transcription factor T-box 15 (Tbx15) is highly and specifically expressed in glycolytic myofibers. Ablation of Tbx15 in vivo leads to a decrease in muscle size due to a decrease in the number of glycolytic fibres, associated with a small increase in the number of oxidative fibres. This shift in fibre composition results in muscles with slower myofiber contraction and relaxation, and also decreases whole-body oxygen consumption, reduces spontaneous activity, increases adiposity and glucose intolerance. Mechanistically, ablation of Tbx15 leads to activation of AMPK signalling and a decrease in Igf2 expression. Thus, Tbx15 is one of a limited number of transcription factors to be identified with a critical role in regulating glycolytic fibre identity and muscle metabolism." TBX
  • Notch regulation of myogenic versus endothelial fates of cells that migrate from the somite to the limb[5] "Multipotent Pax3-positive (Pax3(+)) cells in the somites give rise to skeletal muscle and to cells of the vasculature. We had previously proposed that this cell-fate choice depends on the equilibrium between Pax3 and Foxc2 expression. In this study, we report that the Notch pathway promotes vascular versus skeletal muscle cell fates. ...We now demonstrate that in addition to the inhibitory role of Notch signaling on skeletal muscle cell differentiation, the Notch pathway affects the Pax3:Foxc2 balance and promotes the endothelial versus myogenic cell fate, before migration to the limb, in multipotent Pax3(+) cells in the somite of the mouse embryo." limb | }}Notch}}
  • Jamb and jamc are essential for vertebrate myocyte fusion[6] "Cellular fusion is required in the development of several tissues, including skeletal muscle. In vertebrates, this process is poorly understood and lacks an in vivo-validated cell surface heterophilic receptor pair that is necessary for fusion. Identification of essential cell surface interactions between fusing cells is an important step in elucidating the molecular mechanism of cellular fusion. We show here that the zebrafish orthologues of JAM-B and JAM-C receptors are essential for fusion of myocyte precursors to form syncytial muscle fibres. Both jamb and jamc are dynamically co-expressed in developing muscles and encode receptors that physically interact." (mammalian orthologues JAM-B/Jam2a = JAM2 JAM-C/Jam3b = JAM3)
  • Origin of vertebrate limb muscle: the role of progenitor and myoblast populations[7](review) "Muscle development, growth, and regeneration take place throughout vertebrate life. In amniotes, myogenesis takes place in four successive, temporally distinct, although overlapping phases. Understanding how embryonic, fetal, neonatal, and adult muscle are formed from muscle progenitors and committed myoblasts is an area of active research. In this review we examine recent expression, genetic loss-of-function, and genetic lineage studies that have been conducted in the mouse, with a particular focus on limb myogenesis."
  • The histone methyltransferase Set7/9 promotes myoblast differentiation and myofibril assembly[8] "Together, our experiments define a biological function for Set7 in muscle differentiation and provide a molecular mechanism by which Set7 modulates myogenic transcription factors during muscle differentiation.
  • The expression pattern of myogenic regulatory factors MyoD, Myf6 and Pax7 in postnatal porcine skeletal muscles[9] "The MyoD, Myf6 genes, which belong to the family of muscle regulatory factors (MRFs) play a major role in muscle growth and development. These basic helix-loop-helix (bHLH) transcription factors regulate myogenesis: they initiate the formation of muscle fibres and regulate the transcription of muscle specific genes. The paired-box transcription factor Pax7 plays critical roles during fetal development and this protein is essential for renewal and maintenance of muscle stem cells. In particular, expression of Pax7 and MyoD is correlated with presence of active satellite cells, important in hyperplastic and hypertrophic growth in skeletal muscle."
  • Expression of Gα(z) in C2C12 cells restrains myogenic differentiation[10] "The recent identification of Gα(z) expression in C2C12 myoblasts and its demonstrated interaction with the transcription factor Eya2 inferred an unanticipated role of Gα(z) in muscle development. In the present study, endogenous Gα(z) mRNA and protein expressions in C2C12 cells increased upon commencement of myogenesis and peaked at around 4-6days after induction but were undetectable in adult skeletal muscle. "

Myogenesis

Somites in human embryo (Carnegie stage 11)

Three different types of muscle form in the body.

  • Skeletal muscle - cells originate from the paraxial mesoderm, forming somites, then dermamyotome and finally the myotome. Myoblasts undergo frequent divisions and coalesce with the formation of a multinucleated, syncytial muscle fibre or myotube. The nuclei of the myotube are still located centrally in the muscle fibre. In the course of the synthesis of the myofilaments/myofibrils, the nuclei are gradually displaced to the periphery of the cell.
  • Cardiac muscle - cells originate from the prechordal splanchnic mesoderm.
  • Smooth muscle - cells originate from undifferentiated mesenchymal cells. These cells differentiate first into mitotically active cells, myoblasts, which contain a few myofilaments. Myoblasts give rise to the cells which will differentiate into mature smooth muscle cells.


Somite cartoon3.pngSomite cartoon4.pngSomite cartoon5.png

Muscle Groups

Cartoon showing myotome fate forming epaxial and hypaxial muscle groups.

In humans, body muscles lying dorsal to the vertebral column form the epaxial muscles. The body muscles lying ventral (anterior) to the vertebral column form the hypaxial muscles.

Epaxial Muscle

Anatomical term describing skeletal muscles which lie dorsal (posterior) to the vertebral column developing from the somite. Epaxial muscles are only a small muscle group formed by the transversospinalis, longissimus, and iliocostalis muscles. At the ribcage level, the levatores costarum muscles (transverse processes of C7 to T11 vertebrae) are also involved with rib elevation during respiration.


A recent study has determined the developmental sequence of epaxial muscles in the human embryo between week 5 to 10 (see summary below).[11]

  • Carnegie stage 15 - epaxial portions of myotomes become identifiable laterally to developing vertebrae.
  • Carnegie stage 16 - epaxial portions fusion starting cranially to form a longitudinal muscle column,
    • become innervated by spinal nerve dorsal branches.
  • Carnegie stage 17 - longitudinal muscle mass segregated into medial and lateral columns (completed at CS18).
  • Carnegie stage 18 - medial column segregated again into intermediate and medial columns (completed at CS20).
    • lateral and intermediate columns did not separate in the lower lumbar and sacral regions.
  • Carnegie stage 20 to Carnegie stage 23 - cervical portions of the three columns segregated again from lateral to medial resulting ventrolaterally in rod-like continuations of the caudal portions of the columns and dorsomedially in spade-like portions.
    • lateral column - iliocostalis and splenius
    • intermediate column - longissimus
    • medial column - (semi-)spinalis
  • Early fetal - medial (multifidus) group gain the transversospinal course during vertebral arch closure.

Hypaxial Muscle

(hypomere) Anatomical term describing skeletal muscles which lie ventral (anterior) to the vertebral column developing from the somite myotome. These muscles contribute both body (trunk) and limb skeletal muscle.

  • In the trunk, these form the three anterior body muscle layers.
  • In the limb, these form the extensor and flexor muscle groups.

Ventral body wall timeline[3]

  • Carnegie stage 15 - hypaxial flank muscle primordium laterally in the body wall.
  • Carnegie stage 18 - separate intercostal and abdominal wall muscles differentiated.
  • Carnegie stage 20 - muscles expand ventromedially and caudally bilateral sternal bars fusing in the midline
  • Carnegie stage 23 - rectus muscles reach the umbilicus
  • 6 and 10 weeks - dorsal body wall growth closes the ventral body wall.

Head Muscle

  • jaw associated muscles mainly from cranial mesoderm.
  • jaw, connective tissues and tendons from neural crest cells.

Head muscle precursor myoblast summary from a review.[12]

  • myoblasts for the tongue muscle, migrate like those seen in the limb.
  • myoblasts for extraocular muscles, condense within paraxial mesoderm, then cross the mesoderm:neural crest interface en route to periocular regions.
  • myoblasts for branchial muscle, establish contacts with neural crest populations before branchial arch formation and maintain these relations through subsequent stages of development.


See also for head muscle and connective tissue.[13]

Skeletal Muscle Stages

3D virtual muscle model[14]
3D virtual muscle model[14]

Myoblast - individual progenitor cells

Myotube - multinucleated, but undifferentiated contractile apparatus (sarcomere)

Myofibre (myofiber, muscle cell) - multinucleated and differentiated sarcomeres

  • primary myofibres - first-formed myofibres, act as a structural framework upon which myoblasts proliferate, fuse in linear sequence
  • secondary myofibers - second later population of myofibres that form surrounding the primary fibres.

Muscle Fibre Types

Human skeletal muscle generally consists of individual fibres with different contractile and other properties, this is the basis of classification into "types".

Muscle fiber types
  • type IIB, IIA, IIX, and I fibres - based only on the myosin ATPase activity.
    • Type I fibres appear red, due to the presence of myoglobin.
    • Type II fibres appear white, due to the absence of myoglobin and their glycolytic nature.
  • A group of individual myofibres within a muscle will be innervated by a single motor neuron (motor unit).
  • The electrical properties of the motor neuron will regulate the contractile properties of all associated myofibres.
Fibre Type Type I fibres Type II a fibres Type II x fibres Type II b fibres
Contraction time Slow Moderately Fast Fast Very fast
Size of motor neuron Small Medium Large Very large
Resistance to fatigue High Fairly high Intermediate Low
Activity Used for Aerobic Long-term anaerobic Short-term anaerobic Short-term anaerobic
Maximum duration of use Hours <30 minutes <5 minutes <1 minute
Power produced Low Medium High Very high
Mitochondrial density High High Medium Low
Capillary density High Intermediate Low Low
Oxidative capacity High High Intermediate Low
Glycolytic capacity Low High High High
Major storage fuel Triglycerides Creatine phosphate, glycogen Creatine phosphate, glycogen Creatine phosphate, glycogen
Myosin heavy chain,
human genes
MYH7 MYH2 MYH1 MYH4


Muscle Fibre Type 
Fibre Type Type I fibres Type II a fibres Type II x fibres Type II b fibres
Contraction time Slow Moderately Fast Fast Very fast
Size of motor neuron Small Medium Large Very large
Resistance to fatigue High Fairly high Intermediate Low
Activity Used for Aerobic Long-term anaerobic Short-term anaerobic Short-term anaerobic
Maximum duration of use Hours <30 minutes <5 minutes <1 minute
Power produced Low Medium High Very high
Mitochondrial density High High Medium Low
Capillary density High Intermediate Low Low
Oxidative capacity High High Intermediate Low
Glycolytic capacity Low High High High
Major storage fuel Triglycerides Creatine phosphate, glycogen Creatine phosphate, glycogen Creatine phosphate, glycogen
Myosin heavy chain,
human genes
MYH7 MYH2 MYH1 MYH4
Links: Muscle Development | Muscle Development Timeline

Muscle Contraction

Skeletal muscle sarcomeres

Individual myoblasts in the developing muscle bed initial fuse together to form multi-nucleated myotubes. These myotubes then express the contractile proteins, that are organized into sarcomeres in series along the length of the myotube.

This animation shows the molecular interactions that occur within the skeletal muscle sarcomere between actin and myosin during skeletal muscle contraction.

Legend

  • Moving blob and stick - myosin complex.
  • Moving blob and stick - myosin complex with ATPase activation.
  • Ball binding myosin and splitting - ATP losing a phosphate to form ADP.
  • Twisted string of beads - actin helix.
  • Blue string - tropomyosin.
  • Beads stacked on large bead on blue string - troponin.
  • Small ball binding troponin - Calcium ion (Ca2+).
  • Grey pyramid - Magnesiun ion (Mg2+).
Actin myosin crossbridge 3D animation.gif

Adult Myotome

In both development and the adult, the group of skeletal muscles supplied by a specific segmental spinal nerve is also referred to as a "myotome". The muscle arises from a specific somite and the spinal nerve arises from a specific level of the spinal cord (identified by veretebral column).

In humans this corresponds to the following spinal nerves (from top to bottom) and muscular functions:

Spinal Nerve Muscle Innervation Pattern
Spinal Nerve Acronym Innervation
Cervical spinal nerve 3 C3 supply the diaphragm for breathing.
Cervical spinal nerve 4 C4
Cervical spinal nerve 5 C5 supply the diaphragm for breathing and supply shoulder muscles and muscles to bend our elbow.
Cervical spinal nerve 6 C6 for bending the wrist back.
Cervical spinal nerve 7 C7 for straightening the elbow.
Cervical spinal nerve 8 C8 bends the fingers.
Thoracic spinal nerve 1 T1 spreads the fingers and supplies the chest wall and abdominal muscles.
Thoracic spinal nerve 2 T2 supplies the chest wall and abdominal muscles.
Thoracic spinal nerve 3 T3
Thoracic spinal nerve 4 T4
Thoracic spinal nerve 5 T5
Thoracic spinal nerve 6 T6
Thoracic spinal nerve 7 T7
Thoracic spinal nerve 8 T8
Thoracic spinal nerve 9 T9
Thoracic spinal nerve 10 T10
Thoracic spinal nerve 11 T11
Thoracic spinal nerve 12 T12
Lumbar spinal nerve 1 L1
Lumbar spinal nerve 2 L2 bends the hip.
Lumbar spinal nerve 3 L3 straightens the knee.
Lumbar spinal nerve 4 L4 pulls the foot up.
Lumbar spinal nerve 5 L5 wiggles the toes.
Sacral spinal nerve 1 S1 pulls the foot down.
Sacral spinal nerve 2 S2
Sacral spinal nerve 3 S3 supply the bladder, bowel, sex organs, anal and other pelvic muscles.
Sacral spinal nerve 4 S4
Sacral spinal nerve 5 S5
 Links: Spinal Nerve Myotomes | Spinal Nerve Dermatomes | skeletal muscle

Mouse Limb Muscle

Mouse limb tissue development.jpg

Change in cell types and tissue formation as a function of mouse developmental stage.{#pmid:22174793|PMID22174793}}


Links: mouse

Histology Images


Muscle Histology: Muscle Development | Human HE x4 longitudinal and transverse | Human HE x40 transverse | Human HE x40 longitudinal | Human HE x40 longitudinal | Human HE x4 longitudinal and transverse | Muscle Spindle HE x40 | Human HE x40 | Human HE x40 | Human HE x40 | Human HE x100 | Human HE x100 | Fetal human muscle | Myotendinous junction label | Myotendinous junction HE x40 | Whipf 1 | Whipf 2 | Whipf 3 | Tongue HE x10 transverse | Tongue x100 | Muscle spindle HE x20 | Muscle spindle HE x40

Electron Microscopy Virtual Slides

Electron micrographs below are thin longitudinal section cut through adult human skeletal muscle tissue.

Skeletal Muscle EM1

SkeletalMuscleEM01-icon.jpg

 ‎‎Mobile | Desktop | Original

Skeletal Muscle | EM Slides
Skeletal Muscle EM2

SkeletalMuscleEM02-icon.jpg

 ‎‎Mobile | Desktop | Original

Skeletal Muscle | EM Slides
Skeletal Muscle EM3

SkeletalMuscleEM03-icon.jpg

 ‎‎Mobile | Desktop | Original

Skeletal Muscle | EM Slides
Skeletal Muscle EM4

SkeletalMuscleEM04-icon.jpg

 ‎‎Mobile | Desktop | Original

Skeletal Muscle | EM Slides
Skeletal Muscle EM5

SkeletalMuscleEM05-icon.jpg

 ‎‎Mobile | Desktop | Original

Skeletal Muscle | EM Slides

Image Source: Contributed by Dartmouth College Electron Microscope Facility special thanks to Chuck Daghlian and Louisa Howard. Gallery. Original images may have been altered in size contrast and labelling. (These images are in the public domain)


Links: Electron Microscopy Virtual Slides

Puberty

  • Musculoskeletal mass doubles by the end of puberty
  • regulated growth by - sex steroid hormones, growth hormone, insulin-like growth factors
  • accumulation of (peak) bone mass during puberty relates to future osteoporosis in old age

Satellite Cells

These cells remain as muscle stem cells under the basal lamina around each skeletal muscle fibre. They have a role in postnatal growth and also regeneration of muscle fibres. (see review[15])

Muscle satellite cell EM02.jpg

More recent papers  
Mark Hill.jpg
PubMed logo.gif

This table shows an automated computer PubMed search using the listed sub-heading term.

  • Therefore the list of references do not reflect any editorial selection of material based on content or relevance.
  • References appear in this list based upon the date of the actual page viewing.

References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.

Links: References | Discussion Page | Pubmed Most Recent | Journal Searches


Search term: Satellite Cell

Alessandra Renzini, Nicoletta Marroncelli, Chiara Noviello, Viviana Moresi, Sergio Adamo HDAC4 Regulates Skeletal Muscle Regeneration via Soluble Factors. Front Physiol: 2018, 9;1387 PubMed 30319457

Márcia Marques Silveira, Henrique Xavier Salgado Bayão, Anelise Dos Santos Mendonça, Naiara Araújo Borges, Luna Nascimento Vargas, Alexandre Rodrigues Caetano, Rodolfo Rumpf, Maurício Machaim Franco DNA methylation profile at a satellite region is associated with aberrant placentation in cloned calves. Placenta: 2018, 70;25-33 PubMed 30316323

David M Thomson The Role of AMPK in the Regulation of Skeletal Muscle Size, Hypertrophy, and Regeneration. Int J Mol Sci: 2018, 19(10); PubMed 30314396

Xijie Gu, Lailai Fan, Runjiang Ke, Yinghe Chen rHGF interacts with rIGF-1 to activate the satellite cells in the striated urethral sphincter in rats: a promising treatment for urinary incontinence? Arch. Gynecol. Obstet.: 2018; PubMed 30306312

John F Bachman, Alanna Klose, Wenxuan Liu, Nicole D Paris, Roméo S Blanc, Melissa Schmalz, Emma Knapp, Joe V Chakkalakal Prepubertal skeletal muscle growth requires Pax7-expressing satellite cell-derived myonuclear contribution. Development: 2018; PubMed 30305290

Links: stem cells

Abnormalities

There can be abnormalities associated directly with muscle differentiation and function as well as those mediated indirectly by abnormalities of innervation or skeletal development and other associated systems.

Duchenne Muscular Dystrophy

The most common occuring in Boys and in Duchenne Muscular Dystrophy (DMD). This cause of the disease was discovered in 1988 as a mutation in dystrophin, a protein that lies under the muscle fiber membrane and maintains the cell's integrity. As skeletal muscles have little prenatal load or use it is not until postnatally that muscle wasting occurs, usually in the anti-gravity muscles first. This is a progressive disease usually detected between 3-5 years old.

  • X-linked dystrophy
  • large gene encoding cytoskeletal protein - Dystrophin
  • progressive wasting of muscle, die late teens

Becker Muscular Dystrophy

(BMD) Similar to DMD but allows muscles to function better than in DMD, slower progression, make a shortened form of the mutated protein. Named after Peter Emil Becker, a German doctor who first described this variant in the 1950s.[16]

Autosomal Recessive Muscular Dystrophy

Dystroglycan, a protein that associates with both dystrophin and membrane molecules, is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. A knockout mouse has been generated that has early developmental abnormalities.

Myotonic Dystrophy

An inherited disorder in which the muscles contract but have decreasing power to relax. With this condition, the muscles also become weak and waste away. The myotonic dystrophy gene, found on chromosome 19, codes for a protein kinase that is found in skeletal muscle, where it likely plays a regulatory role. The disease is "amplified" through generations probably by a similar GC expansion associated with Huntington disease.


Facioscapulohumeral muscular dystrophy (FSHD)

  • characterized by the progressive weakness and atrophy of a specific subset of skeletal muscles.
  • mostly affects the muscles of the face, scapula, and upper arms.
    • involvement of specific muscles that it is often used clinically to distinguish FSHD from other forms of muscular dystrophy.


Links: musculoskeletal abnormalities | PLoS Currents - Muscular Dystrophy

References

  1. Warmbrunn MV, de Bakker BS, Hagoort J, Alefs-de Bakker PB & Oostra RJ. (2018). Hitherto unknown detailed muscle anatomy in an 8-week-old embryo. J. Anat. , , . PMID: 29726018 DOI.
  2. Chal J & Pourquié O. (2017). Making muscle: skeletal myogenesis in vivo and in vitro. Development , 144, 2104-2122. PMID: 28634270 DOI.
  3. 3.0 3.1 Mekonen HK, Hikspoors JP, Mommen G, Köhler SE & Lamers WH. (2015). Development of the ventral body wall in the human embryo. J. Anat. , 227, 673-85. PMID: 26467243 DOI.
  4. Lee KY, Singh MK, Ussar S, Wetzel P, Hirshman MF, Goodyear LJ, Kispert A & Kahn CR. (2015). Tbx15 controls skeletal muscle fibre-type determination and muscle metabolism. Nat Commun , 6, 8054. PMID: 26299309 DOI.
  5. Mayeuf-Louchart A, Lagha M, Danckaert A, Rocancourt D, Relaix F, Vincent SD & Buckingham M. (2014). Notch regulation of myogenic versus endothelial fates of cells that migrate from the somite to the limb. Proc. Natl. Acad. Sci. U.S.A. , 111, 8844-9. PMID: 24927569 DOI.
  6. Powell GT & Wright GJ. (2011). Jamb and jamc are essential for vertebrate myocyte fusion. PLoS Biol. , 9, e1001216. PMID: 22180726 DOI.
  7. Murphy M & Kardon G. (2011). Origin of vertebrate limb muscle: the role of progenitor and myoblast populations. Curr. Top. Dev. Biol. , 96, 1-32. PMID: 21621065 DOI.
  8. Tao Y, Neppl RL, Huang ZP, Chen J, Tang RH, Cao R, Zhang Y, Jin SW & Wang DZ. (2011). The histone methyltransferase Set7/9 promotes myoblast differentiation and myofibril assembly. J. Cell Biol. , 194, 551-65. PMID: 21859860 DOI.
  9. Ropka-Molik K, Eckert R & Piórkowska K. (2011). The expression pattern of myogenic regulatory factors MyoD, Myf6 and Pax7 in postnatal porcine skeletal muscles. Gene Expr. Patterns , 11, 79-83. PMID: 20888930 DOI.
  10. Mei H, Ho MK, Yung LY, Wu Z, Ip NY & Wong YH. (2011). Expression of Gα(z) in C2C12 cells restrains myogenic differentiation. Cell. Signal. , 23, 389-97. PMID: 20946953 DOI.
  11. Mekonen HK, Hikspoors JP, Mommen G, Eleonore KÖhler S & Lamers WH. (2016). Development of the epaxial muscles in the human embryo. Clin Anat , 29, 1031-1045. PMID: 27571325 DOI.
  12. Noden DM & Francis-West P. (2006). The differentiation and morphogenesis of craniofacial muscles. Dev. Dyn. , 235, 1194-218. PMID: 16502415 DOI.
  13. Grenier J, Teillet MA, Grifone R, Kelly RG & Duprez D. (2009). Relationship between neural crest cells and cranial mesoderm during head muscle development. PLoS ONE , 4, e4381. PMID: 19198652 DOI.
  14. 14.0 14.1 Waardenberg AJ, Reverter A, Wells CA & Dalrymple BP. (2008). Using a 3D virtual muscle model to link gene expression changes during myogenesis to protein spatial location in muscle. BMC Syst Biol , 2, 88. PMID: 18945372 DOI.
  15. Baghdadi MB & Tajbakhsh S. (2018). Regulation and phylogeny of skeletal muscle regeneration. Dev. Biol. , 433, 200-209. PMID: 28811217 DOI.
  16. BECKER PE & KIENER F. (1955). [A new x-chromosomal muscular dystrophy]. Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr , 193, 427-48. PMID: 13249581

Reviews

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Cite this page: Hill, M.A. (2018, October 17) Embryology Musculoskeletal System - Muscle Development. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Musculoskeletal_System_-_Muscle_Development

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