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.
Mutations in the gene CLN6 located on chromosome 15 were found to be the major cause of recessive Kufs type A disease. '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', Dr Bahlo explained.
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. 'It will also give us the ability to screen for the disease in people in at-risk families, and make it possible for genetic counselling, which we already know to be very important for patients', Professor Berkovic said.
The researchers used SNP (single nucleotide polymorphism) genotyping to identify the region of the genome most likely to contain the gene mutation responsible for Kufs disease. 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 methods used to analyse the data in this study enabled the scientists to produce some exciting results in a short period of time. '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', Dr Bahlo said. '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'.