Discovery of new gene mutation may improve ataxia patients' lives
Chinese University scientists find new type of hereditary brain disease and are working on developing drugs to counter the degenerative illness
In a first for local scientists, Chinese University researchers have identified a new type of genetic mutation that causes degenerative brain conditions.
The mutation leads to a variant of spinocerebellar ataxia (SCA), an incurable genetic disease that strips patients of the ability to coordinate their movements.
The research team, led by Professor Edwin Chan Ho-yin of the university's school of life sciences, discovered the mutation, named SCA40, while analysing the genetic sequence of a form of SCA in the Hong Kong population as part of a three-year study.
"For SCA40, the main thing now is to look more into the disease mechanism so that we can … devise a more disease-specific treatment," Chan said.
According to the Department of Health, about 300 people in Hong Kong have been diagnosed with SCA, which causes a progressive deterioration of the nervous system.
But Chan said the number was merely an estimate that was dependent on the method of reporting. The issue prompted local scientists to set up an SCA registry so experts could conduct clinical tests on those diagnosed with the condition, he said.
Chan's team of biochemists, medical geneticists, neurologists, radiologists and other experts screened 60 patients, 50 per cent of whom had the most common types of SCA. They discovered the SCA40 mutation after screening a small group of families from 30 cases, he said.