Talk:2011 Group Project 5

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

Plagiarism

--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;"

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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

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

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

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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)

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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)

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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! :)

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

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

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

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

--Sandra Issa 20:58, 9 August 2011 (EST)

Here's another interesting topic.

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