Thaindian News

Sydney, Sep 8 (IANS) A breakthrough by scientists could open the way to developing drugs to reverse the effects of a devastating childhood illness known as mitochondrial disease.
Aleksandra Filipovska and her team from the Western Australian Institute of Medical Research (WAIMR) have identified two new proteins that may be the key to treating mitochondrial gene defects known to cause severe and debilitating diseases, particularly among children.

“What we have discovered are two proteins - PCTD1 and PTCD3 - which together regulate how mitochondrial genes are activated in cells,” she said.

Mitochondrial disease cause symptoms like muscle fatigue, hearing loss, diabetes, heart disease and stroke. “Mitochondria are known as the powerhouses of the cell, and are responsible for producing 90 percent of the energy needed by our body to sustain life,” Filipovska said.

When genes are ‘turned on’ they make RNA (ribonucleic acid) which acts as instructions for the gene and initiates proteins to carry out important functions in the cell.

“Now we know these two proteins are what ‘turn on’ mitochondrial genes, they offer us a clue as to how we might be able to control mutated genes which cause mitochondrial disease,” Filipovska added.

“The identification of these two proteins provides excellent targets for the development of drugs that might reverse the effects of mitochondrial gene defect diseases,” she said.

“There is currently no treatment for diseases caused by faulty mitochondria and so it is very exciting that this research may lead to treatments for these diseases which can be extremely devastating - even life-threatening.”

“Faulty mitochondria have already been linked to Alzheimer’s disease and type 2 diabetes, so there is a possibility that such treatments might also have broader applications in the future.”

The study was published in the August edition of the journal Nucleic Acids Research and FEBS Letters.