Sydney: Scientist have identified the gene responsible for Kufs disease -- a rare but fatal hereditary brain disorder, usually identified in early adulthood.
Kufs is activated by fat build-up in brain cells, causing symptoms like epilepsy, dementia, impaired motor function and intellectual deterioration. It affects approximately one in a million people.
Scientists from the Walter and Eliza Hall Institute and the University of Melbourne have used innovative new technologies to identify the gene responsible for Kufs.
The discovery will make it possible to diagnose the disease through a blood test rather than a brain biopsy, reports the American Journal of Human Genetics.
Melanie Bahlo, Katherine Smith and Catherine Bromhead from Eliza Hall`s Bioinformatics division, along with neurologist Sam Berkovic and Todor Arsov of Melbourne University, have found that mutations in the CLN6 gene on chromosome 15 are the cause of inherited Kufs type A disease.
Berkovic said identification of the CLN6 gene would enable more efficient and much less invasive techniques for earlier diagnosis of Kufs disease, according to a Melbourne statement.
"Currently, the only way we can reliably diagnose this disease is to do an invasive and dangerous brain biopsy, or at autopsy," Berkovic said.
"The discovery of the gene at the root of Kufs type A disease will enable us to use a rapid and simple blood test to genetically test for the disease.
Bahlo`s and Smith`s innovative work used data generated from a person`s DNA, called SNP genotyping.
"The genetic cause of Kufs disease has remained a mystery for over 25 years, because the rarity of the condition meant that our patient groups were so small we couldn`t reliably pinpoint any particular genetic mutations that caused their disease," Bahlo said.
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