Talk:2011 Group Project 5
--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.
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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, 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
- History of Disease
- Genetic contribution
- Development of Disease
- Fetal Development
- At birth
- In Adult
- Signs and symptoms
- Recent research
- Fragile X and Autism
--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)
- Signs and Symptoms (Clinical Presentation)
- Genetic Contribution
- Autism and Fragile X syndrome
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
- Recent research
- Autism and Fragile X Syndrome
--Tara Lofthouse 16:26, 21 August 2011 (EST)
Here's another interesting topic.
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:
- 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
- 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 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:
- 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.
- 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:
- 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.
--Tara Lofthouse 14:37, 16 August 2011 (EST)
File:FMR4 is silenced in fragile X syndrome
--Sandra Issa 10:20, 14 August 2011 (EST)
--Tara Lofthouse 13:49, 17 August 2011 (EST)
Like? File: Fragile site appearance and distribution --Ziggy Harrison-Tikisci 08:55, 18 August 2011 (EST)
File: FXR1 and FXR2 crystal structures
--Boris Zolotarev 11:00, 18 August 2011 (EST)
Who's doing what?
Ok, so far we have 7 topics, if we can come up with another topic then we could do two topics each? What do you guys think? Sign your name next to which topics you would like to do and if there are some which require more work than others we can always switch and change ect.