Talk:2011 Group Project 10

From Embryology
Revision as of 21:00, 30 August 2011 by Z3332629 (talk | contribs)

Group 10: User:z3332327 | User:z3332629 | User:z3332824 | User:z3330313


--Mark Hill 07:35, 30 September 2011 (EST) Currently all students originally assigned to each group are listed as equal authors/contributors to their project. If you have not contributed the content you had originally agreed to, nor participated in the group work process, then you should contact the course coordinator immediately and either discuss your contribution or request removal from the group author list. Remember that all student online contributions are recorded by date, time and the actual contributed content. A similar email reminder will be sent to all current students.

Please note the Universities Policy regarding Plagiarism

In particular this example:

"Claiming credit for a proportion of work contributed to a group assessment item that is greater than that actually contributed;"

Academic Misconduct carries penalties. If a student is found guilty of academic misconduct, the penalties include warnings, remedial educative action, being failed in an assignment or excluded from the University for two years.

2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip

Hey Everyone,

So Mark went through each group today during the lab and the webpages and discussed where we should be up to. By next week, he expects the subheadings & some content to be up and running. He also recommended that we should have some more research going on in our discussion page. E.g. Research articles links, interesting sites etc.

Topics have been allocated so please begin your research and typing up some content. We can further divide our headings if necessary, take a look at some other groups, they have some pretty good ideas. Mark will be checking this next week during our lab. He'll be coming around to each of us.

So hopefully see you all next week !

--z3332327 12:53, 25 August 2011 (EST)

Subheadings for assignment

Intro what is DMD


Genetic component

Why is it an abnormality - Symptoms effect

Diagnosis, future/current prospect (treatments?)

2 case studies

Glossary of terms

Post online any preferences you may have in terms of the topics you wish to research and by Sunday we will allocate sub topics

--z3332629 13:09, 18 August 2011 (EST)

Okay hey guys just to get the discussion going, umm I don't mind doing the first 2 on the list. And the "Why is it an abnormality - Symptoms effect" sounds pretty interesting as well. What are your preferences?? :)

--z3330313 14:55, 23 August 2011 (EST)

Hey Everyone, Im happy to do the diagnosis/current/future prospects point and a case study.

--z3332327 15:36, 23 August 2011 (EST)

Hello, I would like to do the 'why is it an abnormality - symptoms effect' and then it will be easy to incorporate that with a case study. So I guess that leaves Ashleigh to do the genetic component mostly, but we will ALL help out with that :D How does this sound?

--User:Z3332824 10:22, 25 August 2011 (EST)

Duchenne Muscular Dystrophy - recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death. It is caused by a mutation of the dystrophin gene at locus Xp21.

Osteogenesis Imperfecta - caused by defect in the gene that produces type 1 collagen, an important building block of bone. Most cases of OI are inherited from a parent, although some cases are the result of new genetic mutations. A person with OI has a 50% chance of passing on the gene and the disease to their children.

Congenital Adrenal Hyperplasia - refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis).

DiGeorge Syndrome - congenital immunodeficiency. Di George syndrome is an inherited condition that lies at the more severe end of a spectrum of syndromes (also known as CATCH22 or 22q11.2 deletion syndrome) that occur when a part of the DNA on chromosome 22 is missing. Several different genes are lost, resulting in a collection of different features, including problems with the immune system, congenital heart defects and abnormalities of the parathyroid glands. z3332327 22:28, 7 August 2011 (EST)

Review Article: Targeting RNA to treat neuromuscular disease. Muntoni, F & Wood, M.J.A. (2011) Nature Reviews Drug Discovery 10, 621-637.

Research Article: Ahmad N, Welch I, Grange R, Hadway J, Dhanvantari S, Hill D, Lee TY, Hoffman LM. Use of imaging biomarkers to assess perfusion and glucose metabolism in the skeletal muscle of dystrophic mice. BMC Musculoskelet Disord.

z3332327 23:11, 10 August 2011 (EST) ______________________________________________________________________________________________________________________________________________

Friedreich Ataxia – Is caused by defect/mutation of the gene FXN, the disorder is recessive. It is an inherited disease that causes nervous system damage and impaired muscle coordination (ataxia) through spinal cord, peripheral nerve and cerebellum degeneration.

Lesch-Nyhan Syndrome – Rare inherited disorder where there is a deficiency of the enzyme: hypoxanthine-guanine phosphoribosyl transferase (HPRT). This is caused by mutations of the HPRT gene located on the x-chromosome. This disorder is an x-linked recession disease, it causes kidney probems (building up of uric acid in all body fluids) and moderate mental retardation.

Farber's Disease – Is an inherited autosomal recessive lysosomal storage disease. The gene responsible making the enzyme ceramidase is mutated. This enzyme breaks down fatty material in the body’s cell. [not recommended to do, limited disease]

Mucopolysaccharidoses – Inherited metabolic disease where a defective or missing enzyme cause large amounts of complex sugar molecules to accumulate in harmful amounts in the bodies cells and tissues. They can’t break down these glycosaminoglycans into smaller chains. It ends up causing progressive cellular damage which affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development.

--z3330313 23:43, 7 August 2011 (EST)

Note - This page is an undergraduate science embryology student group project 2011.
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip

Hey group 10 members! I've quickly done some research on the top 4 listed disorders. All of them had loads of info!! Let me know what you think and lets say by monday we should pick a topic?

Angelman syndrome - rare neuro-genetic disorder - characterised by severe intellectual disability, speech impediment, sleep disturbance, unstable jerky gait, seizures and usually a happy demeanour - occurs about one in 20,000 births - Severe intellectual disability and developmental delay - Profound speech impairment - Movement for balance disorder

Turner’s syndrome - affects about 1 in every 2,500 girls - usually short in height - born with only one X chromosome or they are missing part of one X chromosome - prevents the ovaries from developing properly - kidney problems, high blood pressure, heart problems, overweight, hearing difficulties, diabetes, and thyroid problems

Williams Syndrome - rare genetic disorder characterized by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. - Common problem: cardiovascular disease caused by narrowed arteries - A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder - 50 percent chance of passing it on if they decide to have children

Cystic Fibrosis - Cystic fibrosis (CF) is a recessive genetic disease of the mucus and sweat glands, which affects the entire body. - affects mostly your lungs, pancreas, liver, intestines, sinuses and sex organs - makes it easy for bacteria to grow - Difficulty breathing - multitude of other symptoms, including sinus infections, poor growth, diarrhea, and infertility result from the effects of CF on other parts of the body

--z3332629 14:10, 4 August 2011 (EST)

Sorry i accidently posted it on the actual project page lol

--Ashleigh Pontifex 13:31, 10 August 2011 (EST) Review article: Functional characteristics of dystrophic skeletal muscle: insights from animal models. Jon F. Watchko1, Terrence L. O'Day1, and Eric P. Hoffman2

Research article: The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype Elena Kudryashova1, Arie Struyk2,†, Ekaterina Mokhonova1, Stephen C. Cannon2 and Melissa J. Spencer1,* --Ashleigh Pontifex 13:31, 10 August 2011 (EST)

Hello! So my four diseases:

1. Fragile X Retardation: males mostly, the code CGG is repeated on a fragile area of the X chromosome. The more repeats, the more problems. See for more details on symptoms etc.

2. Klinefelter Syndrome: extra X chromosome in males - XXY. Abnormal body proportions, infertility, less hair, big boobs, problems with their genitals (poor things).

3. Triple X: I think this is a trisomy and should be avoided? It is having XXX in females.

4. Thalassemia: blood disorder in which you have abnormal haemoglobin. Results lead to excessive destruction of RBC which leads to anaemia. Inherited from BOTH parents. Bone deformities in face, fatigue, growth failure, jaundice. See

Personally, out of my four I think either Fragile X or Thalassemia will be the most interesting. Angelman Syndrome and Duchenne Muscular Dystrophy also sound cool. I think we should avoid all ones that are really specific biochem disorders (or to that effect)- something like Mucopolysaccharidoses - because we might get bogged down in the details and have to spend ages figuring out what its actually doing.

What is everyone else's thoughts? See you tomorrow, Rhiannon.

I think we should do Duchenne Muscular Dystrophy. --Ashleigh Pontifex 11:03, 11 August 2011 (EST)

I agree ! Lisa Xiao 11:04, 11 August 2011 (EST)

Yes that sounds good, lets do it :) --Joanna Pak 11:38, 11 August 2011 (EST)

Yep, I'm all for it. I'm glad we can bags it before everyone else :D Rhiannon

--Rhiannon Bice 11:40, 11 August 2011 (EST)

Useful Links

[1]National Human Genome Research Institute: Fact Sheet on Duchennes


No known cure. However treatment aims to manage symptoms to maximize the quality of life. Treatments includes: - Physical Therapy: in order to maintain muscle strength and function. (Inactivity leads to weakened muscles and can worsen the condition) - Orthopedic appliances such as braces and wheelchairs are available to improve mobility - Aggressive management of dilated cardiomyopathy with anti-congestive medications - The medication prednisone — a steroid — is given to improve the strength and function of individuals with DMD (However there are side affects associated with this medication)

Future Prospects - Gene Therapy

[2]Medline Plus: Encyclopedia

--z3332327 15:48, 16 August 2011 (EST)

Hey guys, I couldn't copy a picture relating to Duchenne, so i just got a random one :) Rhiannon.

File:Patterns of zona pellucida deposition and ZPC-ubiquitin colocalization in porcine ocyte-cumulus complexes isolated from small antral follicles.JPG

Patterns of zona pellucida deposition and ZPC-ubiquitin colocalization in porcine ocyte-cumulus complexes isolated from small antral follicles. [1]

  1. <pubmed>21383844</pubmed>

Flow of participants.JPG

File: Flow of Participants --Lisa Xiao 12:43, 18 August 2011 (EST)


--z3330313 12:51, 18 August 2011 (EST)

Hey girls its Ashleigh, sorry I've been quite sick over the last week. How about me copy and paste the headings again and write our names next to our bit and we can leave suggests as to what can fit into that heading etc? Ps did I miss anything from last weeks lab??

--Ashleigh Pontifex 19:38, 30 August 2011 (EST)

Just found an awesome website!

Check it out when you can, it has info on history & treatment as well as some really good images.

File:Point vs frameshift mutations.jpg

Whoever is doing future direction of treatment etc., check out this article on PubMed

Cardiomyopathy of Duchenne muscular dystrophy: current understanding and future directions.


Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and occurs in 1 in 3500 male births. Improved survival due to improvements in clinical care of the musculoskeletal and respiratory systems has led to an increased incidence of cardiomyopathy. Cardiac-related deaths are now seen in approximately 20% of DMD patients. Our current understanding of DMD cardiomyopathy has increased significantly over the past 10 years, but further research is required to improve cardiac treatment and outcomes in DMD. This review provides a summary of the current literature and discussion of potential new therapies for DMD cardiomyopathy.

Copyright © 2011 Wiley Periodicals, Inc.

--Ashleigh Pontifex 20:00, 30 August 2011 (EST)