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New research leads to understanding of why mutations in a gene leads to mitochondrial disease

Monash University researchers have uncovered for the first time the reason mutations in a particular gene lead to mitochondrial disease.

The finding, published in PNAS journal and led by Professor Mike Ryan from Monash University’s Biomedicine Discovery Institute, shows that a gene responsible for causing loss of vision and hearing, TMEM126A, makes a protein that helps build an important energy generator in mitochondria. So, if this gene is defective, it reduces mitochondrial function and impairs energy production, uncovering why mutations lead to the disease.

Mitochondria are critical structures within living cells that play a central role in energy conversion and their job is to process oxygen and take in the sugars and proteins from the food we eat to produce the energy our bodies need to function properly. Mitochondria produce 90 per cent of the energy our body needs to function.

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