Deficiency of the ATP Synthase Caused by nt 8993 Mutation and its Impact on Human Health
DOI:
https://doi.org/10.47611/jsrhs.v11i4.3610Keywords:
Mitochondria, mutation, leigh syndrome, heteroplasmyAbstract
The ATP synthase in mitochondria was responsible for the synthesis of ATP to provide chemical energy for the cell to achieve metabolism. The point mutation at the mitochondrial DNA nt 8993(T>C and T>G) disrupted the normal cellular mechanism of the ATP synthase, causing a deficiency in the production of ATP synthesis. The mitochondrial nt 8993 mutation causes a replacement of leucine amino acid with an arginine(aL156R), changing the sequence of the mitochondrial ATP6 gene, which causes an inefficiency in the c-subunit of the ATP synthase. The potential effect of the nt 8993 mutation can be expressed in Leigh syndrome, which exhibited in neurologic weakness, ataxia, and retinitis pigmentosa. In this review, we will go over the structure of the ATP synthase, mechanism of the mitochondrial nt 8993 mutation, and potential cellular mechanisms to eliminate the mutation.
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