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Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.

Abstract：

:Mutations in mitochondrial DNA is one of the important causes of hearing loss. Here, we performed a mutational screening of tRNA(Ser(UCN)) gene in 1542 Chinese subjects with hearing loss. One subject and five subjects carried tRNA(Ser(UCN)) A7445C and G7444A mutations, respectively, while two subjects harbored both G7444A and 12S rRNA A1555G mutations. Clinical evaluation revealed the variable phenotype of bilateral hearing impairment including severity and audiometric configuration in these subjects. Six pedigrees carrying only G7444A or A7445C mutation exhibited extremely low penetrance of hearing loss, while two families carrying both G7444A and A1555G mutations displayed high penetrance of hearing loss. Of 94 matrilineal relatives in these families, eight subjects suffered from aminoglycoside-induced hearing loss, while seven hearing-impaired subjects did not have a history of exposure to aminoglycosides. Those suggest that G7444A and A7445C mutations themselves are insufficient to produce a clinical phenotype and aminoglycosides are the major modifier factors for the development of deafness in these Chinese families. The combination of A1555G and G7444A mutations increased deafness expression. These observations provide an additional evidence for the early diction and prevention of deafness at the high risk populations carrying these mitochondrial DNA mutations.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Jin L,Yang A,Zhu Y,Zhao J,Wang X,Yang L,Sun D,Tao Z,Tsushima A,Wu G,Xu L,Chen C,Yi B,Cai J,Tang X,Wang J,Li D,Yuan Q,Liao Z,Chen J,Li Z,Lu J,Guan MX

doi

10.1016/j.bbrc.2007.06.171

subject

Has Abstract

pub_date

2007-09-14 00:00:00

pages

133-9

issue

1

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(07)01440-4

journal_volume

361

pub_type

杂志文章

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