Mitochondrial Disorders and the Replacement Therapies.
Journal Title: International Journal of Medical Science and Innovative Research (IJMSIR) - Year 2019, Vol 4, Issue 8
Abstract
Mitochondria are microscopic double membrane bounded cell organelles that are present in eukaryotic cells. They perform several functions such as heat production, calcium storage and regulates cell metabolism. Other than nuclear DNA the only cell organelle which holds its own DNA is mitochondrion. Each human cell contains thousands of copies of mtDNA which at birth are usually all identical a state called homoplasmy. In contrast, individuals with mitochondrial disorders resulting from mtDNA mutations may harbour a mixture of mutant (dysfunctional) and wild-type (abnormal) mtDNA within each cell, and this is called heteroplasmy. Due to this several mitochondrial diseases may occurs, more than 700 diease are known to be associated with mtdna mutations. Some of them includes MELAS, MERF, LEIGH, PEO, optic neuropathy, encephalopathy, optic pigmentosa and many more. There is no actual treatment known till date but can be the mitrochondrial diseases can be controlled among childrens using vitamin cocktails, antioxidant and other supplements. These diseases are carried to offsprings from mother only (maternal inheritance). To avoid the transmission of the diseases to offspring mitochondrial replacement therapies are done in mothers mtDNA.The technique involves the donation of mitochondrial DNA from another healthy mother and nuclearDNA from male and female it is known as three parent inheritance the child gets only 0.3 percent genome of the other mother. There are several techniques which are done in invitro fertilization includes gene therapy, maternal spindle transfer, pronuclear transfer, polar body transfer, genetic bottle neck etc. MRT is the potential for its application for purposes beyond preventing the transmission of serious mtDNA diseases.
Authors and Affiliations
Maryam Fatima
Keywords
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