Discovery of new gene for rare nerve disease may help doctors

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Discovery of new gene for rare nerve disease may help doctors

http://www.keralanext.com/news/?id=534147

ST. LOUIS -- A multi-national research team that includes a Saint

Louis University neurologist has discovered a gene mutation that

causes a rare form of Charcot-Marie-Tooth disease, an inherited

progressive nerve disorder. The findings are published in an advance

online issue of Nature Genetics. Researchers have identified some 50

people from three families who live in St. Louis, Wisconsin, Belgium

and Bulgaria and have this form of Charcot-Marie Tooth (CMT) disease,

says Florian , M.D., Ph.D., professor of neurology, molecular

virology and molecular microbiology and immunology at Saint Louis

University School of Medicine, and associate chief of staff and

director of the St. Louis VA Medical Center Spinal Cord

Injury/Dysfunction Service.

" The discovery of every new gene advances our knowledge of the

function of the organ system for which it is relevant and in which it

is expressed, " says. " A gene identified in a specific and rare

hereditary disease allows for a better understanding of all similar

hereditary diseases. " Not only that, it also allows for a better

understanding of how nerves function in general and in any acquired

neuropathy. So finding a gene in a family with CMT can help us

understand how neuropathy develops in its most common form, for

instance, in this country, that seen in people with diabetes. "

CMT is the most common inherited neurological disorder, affecting one

in 2,500 people and involving the peripheral nerves, which are the

structures that connect the brain and spinal cord to our muscles,

skin and internal organs. Half of those who have CMT have one type of

the illness due to a mutation in one particular gene, and the other

half have one of many other types of the disease. The form of CMT

shared by the three families researchers have studied is known as DI-

CMT C. While CMT is rare, neuropathies in general are very common,

affecting some 10 million people in this country.

" Finding the gene for this disease leads to new diagnostic

possibilities for CMT sufferers, " says. While three families

may not seem like very many, it's enough for scientists to consider

offering a commercial test to detect the genetic abnormality to

diagnose the type of CMT, says.

" All of these diseases start out as being found in very few families.

But once tests can easily be done, you may find many patients who

have the disease, " he says. , his co-researchers and their

affiliated institutions have applied for an international patent for

their finding.

" Part of the justification for our international patent application

is that identification of the gene can lead to a commercial

application -- a gene test. " , who sees many CMT patients at

the St. Louis VA Affairs Medical Center and at Saint Louis

University, will present the findings at the April meeting of the

American Academy of Neurology in San Diego.