Genetic mutation linked to Kufs disease

According to a new study, a genetic mutation thought to be responsible for the rare hereditary brain disorder Kufs disease is finally identified. The research was carried out by Dr Melanie Bahlo and her team at the Walter and Eliza Hall Institute's bioinformatics department in Parkville, Australia, in partnership with neurologist and epilepsy specialists Professor Sam Berkovic and Dr Todor Arsov from the University of Melbourne, Australia.

The team found that the gene CLN6 located on chromosome 15 were found to be the major cause of recessive Kufs type A disease. Dr Bahlo explained, “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.” Going forth the sequencing of CLN6 should also make diagnosis much easier, with the development of a simple blood-based diagnostic test, potentially replacing the only option currently available - an invasive brain biopsy that carries a significant risk. Professor Berkovic said, “It will also give us the ability to screen for the disease in people in at-risk families, and make it possible for genetic counseling, which we already know to be very important for patients.”

The disorder primarily affects the nervous system, leading to progressive cognitive problems. The symptoms are due to an abnormal build up of fats within the lysosomes of nerve cells. This accumulation is thought to be toxic to neurons and ultimately cause these cells to die. The disease is typically identified in early adulthood and affects around one in 1,000,000 people.

The team used sophisticated genetic tools to identify the genetic mutation. Dr. Bahlo explained, “These new techniques for using statistical data and mathematical algorithms to track down the genetic basis of disease are really at the forefront of medical research today. Finding the genes responsible for certain diseases will help us in our quest to generate new diagnostic tools as well as provide the basis for fundamental biology that leads to development of new drugs and therapies to treat disease.”

The paper was published in the American Journal of Human Genetics. The work was supported by the National Health and Medical Research Council and the Batten Disease Support and Research Association.

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.


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