Gene for CMT 1C identified

January 29, 2003

Mutated Gene Identified in Patients With Type 1C Charcot-Marie-Tooth

Disease

By J. Brown, MD

NEW YORK (Reuters Health) Jan 17 - Researchers have identified a gene

that is often mutated in patients with type 1C Charcot-Marie-Tooth

neuropathy (CMT1C), a form for which the genetic basis was previously

unknown.

Type 1 CMT has been divided into four subtypes based on genetic

findings. Gene mutations have been identified for subtypes A, B, and D,

but not for subtype C.

In a study reported last year, Dr. Street and colleagues, from

the University of Washington in Seattle, mapped CMT1C to a region on

chromosome 16. In the current study, the researchers analyzed data from

three CMT1C pedigrees to determine the actual gene mutations that

underlie the disorder.

The researchers report in the January 14th issue of Neurology that

missense mutations in the LITAF gene were present in the CMT1C families.

Based on previous reports, the LITAF (lipopolysaccharide-induced tumor

necrosis factor-alpha factor) gene is known to encode a relatively small

protein that is thought to play a role in protein degradation pathways.

" We were somewhat surprised to find that patients from three different

families had mutations in the same gene, " Dr. Street told Reuters

Health. Furthermore, " the mutations that were observed were only a few

nucleotides apart, " she added.

" Until we did this study, no one had ever thought that the LITAF gene

may be involved in the nervous system, " Dr. Street pointed out.

" For patients with CMT, I think it is important for them to know that

another genetic screen is now available, " she said.

" At this point, we are working to uncover the function of the LITAF gene

in the peripheral nervous system, " Dr. Street noted. " Hopefully,

understanding the mechanism by which the disease works will lead to

therapeutic interventions, " she added.

Neurology 2003;60:22-26.

January 30, 2003

Opps I sent this out too. Guess we both read some of the same information.

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