Czech scientists uncover gene mutation responsible for Kufs disease

19-09-2011

A Czech research team from the Institute of Hereditary Metabolic Disorders at the Medical Faculty of Charles University in Prague has reportedly uncovered the cause of the Kufs disease. At a press briefing in Prague on Monday scientists said a mutation of the DNAJC5 gene was behind the incurable brain disease. The disease is a defect of the metabolism of fats and proteins that is manifested only in adult age. The patients´ condition gradually worsens. They suffer from spasms, mobility disorders, paralysis and dementia. This particular research team has had previous successes in detecting genes responsible for some diseases of the eyes and kidneys.