Researchers have made use of an an innovative and new technology to identify the gene responsible for Kufs disease, a rare and fatal hereditary brain disorder. Thus gene discovery could pave way for blood test rather than a brain biopsy to diagnose the disease.
Dr Melanie Bahlo, Ms Katherine Smith and Ms Catherine Bromhead from the Walter and Eliza Hall Institute's Bioinformatics division, in collaboration with neurologist and epilepsy specialist Professor Sam Berkovic and Dr Todor Arsov from the University of Melbourne, have found that mutations in the CLN6 gene on chromosome 15 are the cause of inherited recessive Kufs type A disease. The paper was published in the American Journal of Human Genetics
Kufs disease is a rare but fatal, hereditary neurodegenerative disease usually identified in early adulthood. Brain symptoms result from a build up of fat in brain cells that is toxic to the cells, causing symptoms including epilepsy, dementia, impaired motor function and intellectual deterioration. It affects approximately 1 in 1,000,000 people.
Professor Berkovic, head of the Epilepsy Research Centre at the University of Melbourne and the Comprehensive Epilepsy Program at Austin Health, said identification of the CLN6 gene would enable more efficient and much less invasive techniques for earlier diagnosis of Kufs disease.