Ageing‐associated tandem duplications in the D‐loop of mitochondrial DNA of human muscle

FEBS Letters

Pang, Cheng-Yoong¹  Weia, Yau-Huei¹  Hsu, Hueih-Shing²  Lee, Hsin-Chen¹ 

[1] Department of Biochemistry, School of Life Science, National Yang-Ming University, Taipei, Taiwan 112, ROC;Department of Urology, Veterans General Hospital-Taipei, Taipei, Taiwan 112, ROC

关键词: Mitochondrial DNA;    D-loop;    Duplication;    Deletion;    Human ageing;    Muscle;    PCR;    polymerase chain reaction;    mtDNA;    mithochondrial DNA;    np;    nucleotide position;    MELAS;    mithochondrial myopathy;    encephalopathy;    lactic acidosis and stroke-like episodes syndrome;    MERRF;    myoclonic epilepsy and ragged-red fibers disease;    KSS;    Kearns—Sayre syndrome;    CPEO;    chronic progressive external ophthalmoplegia;   

DOI  :  10.1016/0014-5793(94)01063-3

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Using PCR techniques, we detected a ∼260 bp (type I) and a ∼200 bp (type II) tandem duplications in the mtDNA of muscle biopsies from aged individuals. Only one 70-year-old subject was found to harbour the type I and 28 out of 58 subjects had type II duplication. About 90% of the subjects harbouring the duplicated mtDNAs also had the 4,977 bp deletion. Moreover, the incidence and quantity of the type II duplication were found to increase with age. The proportion of the type II duplicated mtDNA in the muscle of a 71-year-old subject was 3.1% while that of a 55-year-old individual was only 0.78%. We suggest that the tandem duplications occur alone or with mtDNA deletions in human tissues in an age-dependent manner, and thereby cause synergistic deleterious effects on mitochondrial respiratory functions in human ageing.

【 授权许可】

Unknown