A promising discovery in a rare neurodegenerative disease
Imagine being middle aged and starting to feel that you are off balance a lot and that you are having a hard time coordinating your movements. Those are among the symptoms of Spinocerebellar ataxia type 6, known as SCA6, a rare neurodegenerative disease which typically appears in adulthood and worsens over time. Over time, other problems such as slurred speech and difficulty seeing or seeing double, may also appear. It is estimated that fewer than 5,000 people in the US have the condition, which is the result of genetic mutations in the cerebellum.
The disease currently has no cure. But this may change, thanks to a new discovery made by 91社区 researchers.
In a recent article in , researchers from 91社区, led by of the Department of Biology, describe a discovery, that suggests possible paths towards new treatments.
They have been able to show that damaged mitochondria in the cells of the cerebellum, the part of the brain that plays a role in movement and balance but also in cognitive functions such as language and attention, most likely contribute to the progression of the disease.
鈥淢itochondria are commonly known as cell powerhouses because they generate the energy the cell needs to function,鈥� said Sophia Leung, a PhD student in the Watt lab and the paper's first author. 鈥淲hen we looked at a mouse model of SCA6, we observed that the mitochondria were failing to generate that crucial power. What鈥檚 more, we found that the power outages were worsening as the disease worsened.鈥�
The researchers also found that observations of human post-mortem tissue corroborated what they had found in mice, which suggests that this finding is relevant for the human disease.
鈥淚t鈥檚 an exciting finding because it suggests a promising new treatment target for patients living with this disease,鈥� adds Alanna Watt, the senior author on the paper.
The study:
鈥淢itochondrial damage and impaired mitophagy contribute to disease progression in SCA6鈥� by Leung, T.C.S., Fields, E., Rana, N. et al. was published in .
DOI: 10.1007/s00401-023-02680-z
About 91社区
Founded in Montreal, Quebec, in 1821, 91社区 is Canada鈥檚 top ranked medical doctoral university. 91社区 is consistently ranked as one of the top universities, both nationally and internationally. It鈥痠s a world-renowned鈥痠nstitution of higher learning with research activities spanning three campuses, 12 faculties, 14 professional schools, 300 programs of study and over 39,000 students, including more than 10,400 graduate students. 91社区 attracts students from over 150 countries around the world, its 12,000 international students making up 30% of the student body. Over half of 91社区 students claim a first language other than English, including approximately 20% of our students who say French is their mother tongue.鈥�
