title: [Mutations of mitochondrial tRNASer(UCN)and their connection with hearing loss].
abstract: Mitochondrial tRNASer(UCN)gene mutation is closely related to acoustic nerve deafness. Some mutations can affect the structure and transcriptional processing of tRNASer(UCN), for instance m.7444G>A mutation in tRNASer(UCN)precursor 3' side, m.7472 insC as well as m.7511T>C mutations in the stem and ring of tRNASer(UCN), may influence tRNASer(UCN)stability, thus affect the synthesis of mitochondrial peptides, reduce the production of ATP and cause deafness. This article focuses on mitochondrial tRNASer(UCN)gene mutations as well as the mechanism underlying hearing loss.
authors.affiliation: Attardi Institute of Mitochondrial Biomedicine, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China. docxl2008@163.com.
authors.forename: Wenlu
authors.initials: W
authors.lastname: Fan
authors.forename: Xiaowen
authors.initials: X
authors.lastname: Tang
authors.forename: Binjiao
authors.initials: B
authors.lastname: Zheng
authors.forename: Minxin
authors.initials: M
authors.lastname: Guan
authors.forename: Ling
authors.initials: L
authors.lastname: Xue
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D020022:Genetic Predisposition to Disease / Q000235:genetics; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D024101:Mitochondrial Proteins / Q000096:biosynthesis / Q000235:genetics; D009154:Mutation; D009690:Nucleic Acid Conformation; D012313:RNA / Q000737:chemistry / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012362:RNA, Transfer, Ser / Q000737:chemistry / Q000235:genetics*
chemical_list: D024101:Mitochondrial Proteins; D000077278:RNA, Mitochondrial; D012362:RNA, Transfer, Ser; D012313:RNA