Research

Life Sciences & Biotechnology

Title :

An old drug Methylglyoxal may be a remedy for the loss of MPV17

Area of research :

Life Sciences & Biotechnology

Principal Investigator :

Dr. Alok Ghosh, University Of Calcutta, West Bengal

Timeline Start Year :

2023

Timeline End Year :

2026

Contact info :

Equipments :

Details

Executive Summary :

Defects in mitochondrial DNA (mt-DNA) copy numbers can lead to fatal mitochondrial diseases (MD) due to loss of mitochondrial respiratory chain activity. MPV17, an evolutionarily conserved mitochondrial inter-membrane channel protein, has been linked to mt-DNA defects, but its precise molecular functions remain enigmatic. several pathogenic variants in MPV17 have been reported to cause hepatocerebral mt-DNA depletion syndrome, mainly in infants or children with symptoms of hepatopathy, liver failure, lactic acidosis, and neurological disorders. Mutations of the MPV17 gene have been reported in multiple MD patients in India. In vitro and in vivo knockdown of mammalian and fish MPV17 causes cell energetic quiescence and profound mitochondrial dysfunction. sym1∆, a yeast strain with high conservation, exhibited severe respiratory growth, impaired mitochondrial morphology, and mtDNA stability. Despite progress, no remedy is available for MPV17 defects, leading to patients dying without treatment. A group is addressing this gap by performing a semi-high throughput drug screening in the sym1∆ yeast cell, identifying few compounds that can restore the respiratory growth defect of sym1∆. Methylglyoxal (MG), a normal glycolytic side product, is hypothesized to be a remedy for the MPV17 mediated respiratory defect.

Co-PI:

Dr. sanjay Ghosh, University Of Calcutta, Kolkata, West Bengal-700073

Total Budget (INR):

43,00,683

Organizations involved