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.
No drug treatment is currently available for SCA, meaning patients are provided with only physiotherapy to relieve the symptoms of their condition.
Early symptoms include trouble maintaining balance when walking, and patients developing a wide gait to compensate for the loss of coordination.
Most patients are diagnosed between the ages of 20 and 40, and as the condition progresses, it gradually leaves patients wheelchair-bound with other problems such as speech defects and double vision.
Ataxia organisations around the world have named today International Ataxia Awareness Day as part of a campaign to raise global awareness of the incurable illness.
Chan said the next step was for scientists to develop drugs to treat SCA40 and other types of the condition that have already been discovered.
"We are working on [developing] SCA Type 3 drugs. SCA Type 3 is the most commonly found variant of SCA in Asia, but we are still working on that," he said.
Last year, Chan and his team received funding from Hong Kong's Research Grants Council to develop drugs to counter the disease and its symptoms.
The team's research was published in this month's issue of the international .
