A novel disease gene causing neurodegenerative disorders

A novel disease gene causing neurodegenerative disorders

Researchers have discovered and characterized a previously unknown disease gene linked to the degeneration of optic and peripheral nerve fibers. 
 
Patients with mutations in this gene present symptoms similar to optic atrophy and Charcot-Marie-Tooth Type 2 (CMT2), including vision loss and weakening of the lower leg and foot muscles beginning in the first decade of life.

The novel variants occur in a gene called SLC25A46 that functions in mitochondria, organelles inside animal cells known as the "cellular engines." They transform food into fuel that allow cells to carry out energy-demanding functions.

Mitochondria constantly undergo fusion and fission to respond to cellular energy demands. By changing their size and connectivity through fusion and fission, mitochondria can travel to regions in cells where they are needed.

The study reveals that disrupting SLC25A46 causes mitochondria to become both more highly interconnected and improperly localized in cells.

SLC25 family members act like a channel, transporting molecules across the bilayer membranes inside mitochondria. But unlike the majority of human SLC25 family members (there are 53) that transport molecules across the inner mitochondrial membrane, SLC25A46 settles on the outer mitochondrial membrane where it regulates mitochondrial dynamics.

Mutations in the genes associated with mitochondria dynamics OPA1 and MFN2 are linked to similar mitochondrial disorders. Homologous genes in baker's yeast, work in combination with a gene called UGO1, which has ancestral similarities to SLC25A46. The new findings suggest that the SLC25A46 and Ugo1 proteins may play similar roles.

Given the similarities between the diseases caused by mutations in OPA1, MFN2 and SLC25A46, these genes could be involved in common pathological mechanisms of neurodegeneration, the study says.

http://med.miami.edu/news/researchers-identify-a-novel-disease-gene-causing-neurodegenerative-disorde
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