Talk:2011 Group Project 5

From Embryology

Group 5: User:z3290618 | User:z3290689 | User:z3290808 | User:z3290815


--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


z3290808: I don't know why it wouldn't let you save, i wasn't editing at that time. Try again and if it doesn't work maybe paste your work here with your references and one of us can put it onto the project page for you?

Boris: At least something is up :) My section needs a lot more editing and a lot more cross checking with other references as well.. Any progress is good progress at the moment --Tara Lofthouse 03:35, 1 September 2011 (EST)

Heya, I took a stab at my section but I'm a bit dead at the moment (points to timestamp). I'll try get some more done tomorrow between the lecture and lab.

On the plus side, I added another 6 or 7 references to our thingy ^^

--Boris Zolotarev 01:28, 1 September 2011 (EST)

Guys it's not letting me save what i have written onto the group page! Is anyone currently on and trying to edit at this same time? --z3290808 22:41, 31 August 2011 (EST)

Yo Boris, You do Etiology, I'll do signs and symptoms. We can work towards the middle. That leaves history and epidemiology to Tara and Recent research to Sandra. And then we can all refine it/make an intro. We can at least do that to start with. Also: can everyone contribute to the glossary. If you find any terms that people (eg. me) wont understand, please keep them.--Ziggy Harrison-Tikisci 10:10, 25 August 2011 (EST)

The only reason why we need to put our names down now is to satisfy the weekly individual assessment but of course we can change things. Just put your name down for epidemiology or whatever was left over and we'll discuss it tomorrow. Maybe if we could get to the lab 10-15min earlier because we never get enough time at the end of the lab?

--Tara Lofthouse 19:50, 24 August 2011 (EST)

Just skimmed through this (damn I left it late >< ), should I nominate something now or should we discuss it tomorrow? Also, what do you guys think of having some sort of realtime chat method? Facebook or something of the sort... --Boris Zolotarev 19:17, 24 August 2011 (EST)

Yeah i know but the ones i put my name down for are really not that lengthy. We definitely need to have a chat tomorrow. --Tara Lofthouse 17:45, 24 August 2011 (EST)

Hey guys, you haven't left much for Boris and i to do lol .. I don't mind doing the recent research part - focussing on autism and fragile x.. but then i don't know what Boris would do? I will sign my name for now but i think we will have to change it around a little to better make the work load equally spread.

Cheers, --Sandra Issa 16:17, 24 August 2011 (EST)

I've taken it all on board and changed it. I'm fine for you to do whatever you want but doing both the genetic component and the signs and symptoms might be a lot of work. As long as everything is spread evenly i don't mind :)

--Tara Lofthouse 16:35, 23 August 2011 (EST)

Hey, I was wondering if anyone minds if I do 'Genetic contribution'. Also, is it okay if I follow the timeline of the disease? I will start with the chromosome, saying what the defect causes at a molecular level, and then when it first presents, and how it affects the development etc up until how it presents in the adult. Which means I'd probably do "Signs and symptoms (clinical Presentation)" as well. ALSO, we need to do a brief history of the disorder. So, below I've just tweaked the layout Tara and Sandra put up: let me know what you think

  • Introduction
  • History of Disease
  • Epidemiology
  • Etiology
    • Genetic contribution
  • Development of Disease
    • Fetal Development
    • At birth
    • In Adult
      • Signs and symptoms
  • Recent research
    • Fragile X and Autism
    • Diagnosis
    • Treatment

--z3290618 15:18, 23 August 2011 (EST)

Yeah, i think it makes sense how you've got it Sandra. However like Boris said maybe instead of having the heading "Autism and Fragile X Syndrome" maybe we could have recent research/current studies or something along those lines and include it there along with diagnosis and treatment? Do you think that etiology is too similar to genetic contribution?

ALSO!!! What headings would you like to research? I set up a "Who's doing what?" heading on this page to sign your name next to.

--Tara Lofthouse 12:39, 23 August 2011 (EST)

Hey guys, i have come up with a couple of headings that we can use:

  • Introduction (short summary)
  • Epidemiology
  • Signs and Symptoms (Clinical Presentation)
  • Etiology
  • Genetic Contribution
  • Autism and Fragile X syndrome
  • Diagnosis?
  • Treatment?
  • References

Tara i also like the format that you have included below.. i basically have made something similar but in different order based on what i think should come first perhaps? The ones with a question mark beside them are ones that i am unsure if we should include or not. Let me know what you think! Cheers, --Sandra Issa 12:03, 23 August 2011 (EST)

Hahaha of course it's your place to say so.. good suggestion, i'll fix it up now and if we want to change it again than that's no problem. I just thought i'd put something up to get started and we can go from there. What i've done is no where near completed. --Tara Lofthouse 18:52, 22 August 2011 (EST)

(I know it's not my place to say so before I've submitted my own suggestion but) I think I'd put "Autism and Fragile X Syndrome" within the "recent research" subtopic. I'll put up a suggestion by tomorrow evening, if not earlier. --Boris Zolotarev 09:27, 22 August 2011 (EST)

Hello everyone, what do you think about using the following headings for our project? Are there ones that you think we could omit or ones that you would like to add? We also need to decide on who is doing what.

  • Signs and symptoms
  • Diagnosis
  • Genetics
  • Etiology
  • Epidemiology
  • Treatment
  • Recent research
    • Autism and Fragile X Syndrome
  • References

--Tara Lofthouse 16:26, 21 August 2011 (EST)

Group project --Ziggy Harrison-Tikisci 12:58, 4 August 2011 (EST)

OMIM--Ziggy Harrison-Tikisci 12:59, 4 August 2011 (EST)

Here's another interesting topic.

Apert Syndrome aka acrocephalosyndactyly --z3290689 11:38, 11 August 2011 (EST)

Congenital Hypomyelinating Neuropathy

What do you guys think you of this topic Congenital Hypomyelinating Neuropathy?

There are quite a few articles on it:

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination.

Analysis of congenital hypomyelinating Egr2 Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination.

P0 Glycoprotein Overexpression Causes Congenital Hypomyelination of Peripheral Nerves.

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg–Hirschsprung disease: Phenotypes linked by SOX10 mutation.

A lot of them overlap with their findings and the focus of their studies, so it seems to be a pretty thorough topic.

--Boris Zolotarev 21:03, 7 August 2011 (EST)

I’m all for doing Congenital Hypomyelinating Neuropathy as our topic.

Here are some articles I have found:

Research Articles:

Congenital Hypomyelinating Neuropathy with Lethal Conduction Failure in Mice Carrying the Egr2 I268N Mutation

  • Describes the engineering and characterisation of a mouse carrying the I268N mutation in Egr2.
  • The proper formation of myelin by Schwann cells requires a series of transcription factors including SOX10, SCIP/Oct6, Egr2, and Nab1/Nab2.
  • A loss of these transcription factors disrupts the myelination process, as does persistent overexpression.
  • This was observed in patients with recessively inherited Charcot–Marie–Tooth (CMT) disease type 4E, which is predicted to alter the ability of Egr2 to interact with the Nab transcriptional coregulatory proteins.
  • Charcot–Marie–Tooth disease (CMT) is a common inherited disorder of peripheral nerves characterized by progressive sensory loss and weakness beginning in the feet and legs, and later progressing to the hands
  • Mice homozygous for Egr2I268N developed a congenital hypomyelinating neuropathy similar to human counterparts.
  • Egr2I268N is expressed at normal levels in developing nerve but is unable to interact with Nab proteins or to properly activate transcription of target genes critical for proper peripheral myelin development.
  • Egr2I268N/I268N mutant mice maintain normal weight and have only mild tremor until 2 weeks after birth, at which point they rapidly develop worsening weakness and uniformly die within several days. Nerve electrophysiology revealed conduction block, and neuromuscular junctions showed marked

Congenital hypomyelinating neuropathy

  • Describes the symptoms of two patients with congenital hypomyelinating neuropathy
  • Hypotonia = low muscle tone (amount of tension or resistance to movement in a muscle)
  • Areflexia = absence of neurologic reflexes such as the knee jerk
  • Distal muscle weakness
  • Atrophy = wasting of a part of the body
  • Exceedingly slow nerve conduction velocities
  • Usually leading to early death or severe disability.
  • It contains great images of the histology of the condition as well as the actual patients
  • It contains a detailed recount of sural nerve biopsies of the patients
  • It compares the symptoms of congenital hypomyelinating neuropathy in Trembler mice as they are very similar to human symptoms

Review Article:

Congenital hypomyelinating neuropathy: two patients with long-term follow-up

  • Review of previously reported cases of congenital hypomyelinating neuropathy (CHN) aswell as two unrelated females with CHN
  • The first patient is now 9 years old and has showed continual improvement of motor function even though her follow up nerve conduction velocities remained unchanged
  • The second patient is now 5 years old and has also showed continual motor function improvement since her first visit even though her follow up nerve conduction velocities also remained unchanged

--Tara Lofthouse 12:22, 9 August 2011 (EST)

Fragile X Syndrome


Hey guys, I had a look at Congenital Hypomyelinating Neuropathy and to be honest i did not find it very appealing. I found the disorder "Fragile X Syndrome" to be very interesting! Can you guys please check out the following link on Fragile X Syndrome and let me know if the disease also interests you!? I found the information on it is quite extensive and the disease is well known. If you do not want to base our project on this syndrome, i am sure we can decide on one we can all enjoy studying! :)

Here are some interesting articles that i have found on Fragile X Syndrome:

  • Review Article: Fragile X syndrome: from gene discovery to therapy [1]

- This review focuses on the molecular and biochemical pathways shown to be relevant in the Fragile X Syndrome. It describes that a mutation in the FMR-1 gene was found to lead to Fragile X Syndrome due to excessive repeats of the trinucleotide sequence CGG which is known to inactivate the FMR-1 gene, making the X chromosome fragile and prone to breakage. This review article also demonstrates the many vital functions of the FMR-1 gene such as its role in RNA transport and stability, thus absence of the protein transcribed and translated from this gene is thought to affect brain development and thus leads to signs of mental retardation.

  • Research Article: DNA methylation represses FMR-1 transcription in fragile X syndrome [2]

- This research article explores the two molecular differences of the FMR-1 gene in normal individuals vs. those with Fragile X Syndrome. These differences are an increase in size of an FMR-1 exon containing a CGG repeat and abnormal methylation of a CpG island 250 bp proximal to this repeat. This research article also shows how these two abnormalities repress transcription of the FMR-1 gene, leading to the absence of the FMR-1 protein which is thought to be the contributing factor to the Fragile X phenotype.

--Sandra Issa 19:53, 9 August 2011 (EST)

Here are some articles I have found for Fragile X syndrome:

Research Article: The state of synapses in Fragile X Syndrome [3]

  • Fragile X Syndrome is the most common inherited form of mental retardation and a leading genetic cause of autism.
  • Evidence that suggests alterations in synapse number, structure and function are associated and contribute to both Fragile X Sydrome and autism.
  • Fraile X Syndrome is caused by loss of function of the Fmr1 gene which encodes the RNA binding protein, FMRP (FMRP is present at synapses where it associates with mRNA and polyribosomes).
  • FMRP is also has a role in synapse development, elimination and plasticity.
  • An understanding of the molecular and synaptic function of FMRP, as well as the consequences of its loss, has led to the early developments of therapeutic strategies for Fragile X Syndrome.

Research Article: Fragile x syndrome: history, diagnosis, and treatment. [4]

Review Article: Systematic review of pharmacological treatments in fragile X syndrome [5]

Review Article: FMR1 and the fragile X syndrome: human genome epidemiology review [6]

--Tara Lofthouse 14:37, 16 August 2011 (EST)


FMR4 is silenced in fragile X syndrome

FMR4 is silenced in fragile X syndrome.jpg

File:FMR4 is silenced in fragile X syndrome

--Sandra Issa 10:20, 14 August 2011 (EST)


Hippocampal Formation.jpg

File: Hippocampal_Formation

--Tara Lofthouse 13:49, 17 August 2011 (EST)

Like? Fragile site appearance and distribution.png File: Fragile site appearance and distribution --Ziggy Harrison-Tikisci 08:55, 18 August 2011 (EST)

FXR1 (A) and FXR2 (B) crystal structures


File: FXR1 and FXR2 crystal structures

--Boris Zolotarev 11:00, 18 August 2011 (EST)

Who's doing what?

  • Introduction = DO AT THE END!!!!
  • History of Disease = Tara
  • Epidemiology = Tara
  • Etiology = Boris
  • Signs and symptoms = Ziggy
    • Physical phenotype
    • Social interaction
    • Intellectual development
  • Recent research = Sandra
    • Fragile X and Autism
    • Diagnosis
    • Treatment
  • References


  1. <pubmed>21196228</pubmed>
  2. <pubmed>1301913</pubmed>
  3. <pubmed>19325170</pubmed>
  4. <pubmed>6348096</pubmed>
  5. <pubmed>19822023</pubmed>
  6. <pubmed>11545690</pubmed>
  8. <pubmed>10208170</pubmed>
  9. <pubmed>11445641</pubmed>
  10. <pubmed>12638084</pubmed>
  12. <pubmed>8348153</pubmed>