Gene Mutations Identified for Charcot-Marie-Tooth Syndrome

March 11, 2010

Researcher's personal genome used to study neurological disorder

WEDNESDAY, March 10 (HealthDay News) -- By analyzing the genome of a colleague

who has Charcot-Marie-Tooth syndrome, U.S. scientists have identified gene

mutations associated with the neurological disorder, which affects the function

of nerves in the limbs, hands and feet.

The study, published online March 10 in the New England Journal of Medicine,

involved sequencing the complete genome of Dr. Lupski, vice chairman of

molecular and human genetics at Baylor College of Medicine in Houston.

The researchers found that Lupski has different mutations in the copies of the

gene SH3TC2 that he inherited from his parents. Neither parent has the disease

but four of their children inherited both the gene mutations and the disease.

" This is the first time we have tried to identify a disease gene this way, "

Lupski said in a Baylor news release. " It demonstrates that the technology is

robust enough that we can find disease genes by determining the whole genome

sequence. We can start to use this technology to interpret the clinical

information in the context of the sequence -- of the hand of cards you have been

dealt. Isn't that the goal or dream of personalized genomic medicine? "

Lupski and his colleagues also found that a person who carries only one of the

recessive mutations is susceptible to carpal tunnel syndrome.

" I wonder how often this occurs, " Lupski said. " People who carry one gene for a

recessive disease may have susceptibility for complex traits. Will we be able to

look at some alleles [gene copies] like this to see what you might be

susceptible to? "

More information

The U.S. National Institute of Neurological Disorders and Stroke has more about

Charcot-Marie-Tooth syndrome.

-- Preidt

SOURCE: Baylor College of Medicine, news release, March 10, 2010

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