AsianScientist (May 10, 2011) – A group of scientists in Australia have identified the gene mutation responsible for Kufs disease, a rare but fatal neurodegenerative disorder. The discovery may enable doctors to diagnose the condition through a simple blood test rather than an invasive brain biopsy.
Kufs disease is an autosomal recessive disorder that affects approximately 1 in 1,000,000 people. The symptoms – seizures, dementia, ataxia, involuntary movements, and speech difficulties – typically appear around age 30, and are caused by a buildup of lipopigment within the brain’s neurons. The buildup of this substance is toxic to the neurons and over time, the progressive death of neurons leads to decline in movement and cognition of affected individuals.
In a paper published in the American Journal of Human Genetics, researchers from the bioinformatics division of the Walter and Eliza Hall Institute collaborated with researchers from the University of Melbourne, pinpointing mutations in the CLN6 gene of chromosome 15 as the major cause of the disease.
Obtaining genetic samples to study Kufs disease is difficult due to its rarity. Dr. Melanie Bahlo and Ms. Katherine Smith used an innovative suite of single nucleotide polymorphism (SNP) genotyping, mathematical analysis and statistical algorithms to compensate for the small sample size, which enabled them to find the region of DNA that contained the mutation responsible for the disease.
Professor Sam Berkovic, a senior author on the paper, said the only way to diagnose the disease is through brain biopsy or at autopsy. Through the identification of the CLN6 gene, doctors will now be able to make a diagnosis as well as screen for people at risk through simple blood tests. Genetic counseling would then be possible for at risk families.
The researchers call the discovery of the CLN6 gene a “great outcome” for the team and for people affected by Kufs disease. They hope that the discovery will lead to development of new drugs and therapies to treat the disease.
The article can be found at: Arsov T et al. (2011) Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6.
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Source: Walter and Eliza Hall Institute.
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