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Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia.

Abstract：

:Ataxia Telangiectasia (A-T) is a progressive childhood disorder characterized most notably by cerebellar degeneration and predisposition to cancer. A-T is caused by mutations in the kinase ATM, a master regulator of the DNA double-strand break response. In addition to DNA-damage signaling defects, A-T cells display mitochondrial dysfunction that is thought to contribute to A-T pathogenesis. However, the molecular mechanism leading to mitochondrial dysfunction in A-T remains unclear. Here, we show that lack of ATM leads to reduced mitochondrial DNA (mtDNA) integrity and mitochondrial dysfunction, which are associated to defective mtDNA repair. While protein levels of mtDNA repair proteins are essentially normal, in the absence of ATM levels specifically of DNA ligase III (Lig3), the only DNA ligase working in mitochondria is reduced. The reduction of Lig3 is observed in different A-T patient cells, in brain and pre-B cells derived from ATM knockout mice as well as upon transient or stable knockdown of ATM. Furthermore, pharmacological inhibition of Lig3 in wild type cells phenocopies the mtDNA repair defects observed in A-T patient cells. As targeted deletion of LIG3 in the central nervous system causes debilitating ataxia in mice, reduced Lig3 protein levels and the consequent mtDNA repair defect may contribute to A-T neurodegeneration. A-T is thus the first disease characterized by diminished Lig3.

journal_name

DNA Repair (Amst)

journal_title

DNA repair

authors

Sharma NK,Lebedeva M,Thomas T,Kovalenko OA,Stumpf JD,Shadel GS,Santos JH

doi

10.1016/j.dnarep.2013.11.002

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

22-31

eissn

1568-7864

issn

1568-7856

pii

S1568-7864(13)00284-X

journal_volume

13

pub_type

杂志文章

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