1.Mutations of mitochondrial tRNAand their connection with hearing loss.
Wenlu FAN ; Xiaowen TANG ; Binjiao ZHENG ; Minxin GUAN ; Ling XUE
Chinese Journal of Medical Genetics 2017;34(1):128-132
Mitochondrial tRNAgene mutation is closely related to acoustic nerve deafness. Some mutations can affect the structure and transcriptional processing of tRNA, for instance m.7444G>A mutation in tRNAprecursor 3' side, m.7472 insC as well as m.7511T>C mutations in the stem and ring of tRNA, may influence tRNAstability, thus affect the synthesis of mitochondrial peptides, reduce the production of ATP and cause deafness. This article focuses on mitochondrial tRNAgene mutations as well as the mechanism underlying hearing loss.
Amino Acid Sequence
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Base Sequence
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Genetic Predisposition to Disease
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genetics
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Hearing Loss
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genetics
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Humans
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Mitochondrial Proteins
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biosynthesis
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genetics
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Mutation
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Nucleic Acid Conformation
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RNA
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chemistry
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genetics
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RNA, Transfer, Ser
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chemistry
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genetics