Mutations in Gene Leads to Mitochondrial Disease

The researchers from the Monash University have uncovered the reason mutations in a particular gene lead to Mitochondrial Disease.The findings were published in PNAS journal.

The research was 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. In case the gene is defective, it reduces mitochondrial function and impares energy production, uncovering why mutations lead to the disease.

Mitochondria are important structures within living cells. They 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 produces 90% of the energy our body needs to function. Mitochondrial Disease is an inherited, chronic illness that can present at birth or develop later in life and occurs when mitochondria fail to produce enough energy for the body to function properly.

The cells of the optic nerve and the inner ear are particularly sensitive to mitochondrial defects due to the high energy requirements to transfer information to the brain, but Mitochondrial Disease can affect almost any part of the body.The study found that loss of TMEM126A results in an isolated complex I deficiency which is a common form of disease where a critical enzyme called complex I is reduced and that the TMEM126A protein binds to a number of complex I subunits and additional proteins that help build the enzyme, known as assembly factors.