Defective cellular battery triggers brain disease: Study

A defective mitochondria, which acts as a cellular battery, could be the trigger for a devastating neurodegenerative disease, showing up in toddlers just as they begin to walk, reveals a study.
 
The research throws new light on the disease and reveals an important common link with other brain diseases, potentially opening the way to new therapeutic approaches for those who suffer from them.
 
The findings came from researchers at the Montreal Neurological Institute and Hospital of McGill University, the journal Proceedings of the National Academy of Sciences reported.
 
The disorder, Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), first identified in the 1970s, primarily affects the cerebellum, the brain area for coordination of movement. It also strikes at an early age, according to a university statement.
 
The symptoms include poor motor coordination, spastic stiffness, muscle wasting, uncoordinated eye movements and slurred speech. Most sufferes are wheelchair-bound by their early 40s and have a reduced life expectancy.
 
"This finding is the first important advancement in the 10 years since the identification of the mutated gene because it gives an indication of the underlying cellular mechanism of the disease, and is a vital first step towards developing therapeutic strategies for ARSACS," said Bernard Brais, neurologist at The Neuro, McGill University.
 
In 2000, scientists identified the gene associated with the disease, called SACS, which produces a massive 4,579 amino acid protein called sacsin, but until now the role or the function of the sacsin protein has been unknown.
 
The research led by scientists Brais and Peter McPherson Paul Chapple at Queen Mary, University of London, indicates that that the sacsin protein has a mitochondrial function, and that mutations causing ARSACS are linked to a defective mitochondria in neurons (nerve and brain cells).