Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers

Shihli Su; Shawhwa Jou; Wenling Cheng; Tatsung Lin; Jieyuan Li; Chinchang Huang; Yichung Lee; Bingwen Soong; Chinsan Liu

doi:10.1016/j.cca.2009.12.007

Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers

Shihli Su, Shawhwa Jou, Wenling Cheng, Tatsung Lin, Jieyuan Li, Chinchang Huang, Yichung Lee, Bingwen Soong, Chinsan Liu^*

^*Corresponding author for this work

Research output: Contribution to journal › Journal Article › peer-review

14 Scopus citations

Abstract

Background: Mitochondrial DNA (mtDNA) damage may be involved in the pathogenesis of spinal and bulbar muscular atrophy (SBMA). Methods: We recruited 20 SBMA patients, 20 SBMA female carriers, and 20 normal age-matched subjects. Mitochondrial DNA damage in the 3 groups of subjects was evaluated using three novel mtDNA oxidative markers: mtDNA copy number, 4977bp deletion of mtDNA (mtDNA⁴⁹⁷⁷) and oxidative modification of mtDNA index (mtDNA^ΔCT) in leukocytes. Results: Decreased leukocyte mtDNA copy number, increased mtDNA^ΔCT value, and increased frequency of mtDNA⁴⁹⁷⁷ which correspond to the number of CAG repeats in the mutated androgen receptor gene, were found not only in SBMA patients but also in female carriers. Conclusions: Leukocyte mtDNA copy number, mtDNA^ΔCT and mtDNA⁴⁹⁷⁷ may serve as useful biomarkers of mtDNA damage and can be used to monitor SBMA disease progression.

Original language	English
Pages (from-to)	626-630
Number of pages	5
Journal	Clinica Chimica Acta
Volume	411
Issue number	9-10
DOIs	https://doi.org/10.1016/j.cca.2009.12.007
State	Published - 2010
Externally published	Yes

Keywords

Androgen receptor
CAG repeat
Mitochondrial DNA
Oxidative stress
SBMA

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10.1016/j.cca.2009.12.007

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title = "Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers",

abstract = "Background: Mitochondrial DNA (mtDNA) damage may be involved in the pathogenesis of spinal and bulbar muscular atrophy (SBMA). Methods: We recruited 20 SBMA patients, 20 SBMA female carriers, and 20 normal age-matched subjects. Mitochondrial DNA damage in the 3 groups of subjects was evaluated using three novel mtDNA oxidative markers: mtDNA copy number, 4977bp deletion of mtDNA (mtDNA4977) and oxidative modification of mtDNA index (mtDNAΔCT) in leukocytes. Results: Decreased leukocyte mtDNA copy number, increased mtDNAΔCT value, and increased frequency of mtDNA4977 which correspond to the number of CAG repeats in the mutated androgen receptor gene, were found not only in SBMA patients but also in female carriers. Conclusions: Leukocyte mtDNA copy number, mtDNAΔCT and mtDNA4977 may serve as useful biomarkers of mtDNA damage and can be used to monitor SBMA disease progression.",

keywords = "Androgen receptor, CAG repeat, Mitochondrial DNA, Oxidative stress, SBMA",

author = "Shihli Su and Shawhwa Jou and Wenling Cheng and Tatsung Lin and Jieyuan Li and Chinchang Huang and Yichung Lee and Bingwen Soong and Chinsan Liu",

year = "2010",

doi = "10.1016/j.cca.2009.12.007",

language = "英语",

volume = "411",

pages = "626--630",

journal = "Clinica Chimica Acta",

issn = "0009-8981",

publisher = "Elsevier B.V.",

number = "9-10",

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TY - JOUR

T1 - Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers

AU - Su, Shihli

AU - Jou, Shawhwa

AU - Cheng, Wenling

AU - Lin, Tatsung

AU - Li, Jieyuan

AU - Huang, Chinchang

AU - Lee, Yichung

AU - Soong, Bingwen

AU - Liu, Chinsan

PY - 2010

Y1 - 2010

N2 - Background: Mitochondrial DNA (mtDNA) damage may be involved in the pathogenesis of spinal and bulbar muscular atrophy (SBMA). Methods: We recruited 20 SBMA patients, 20 SBMA female carriers, and 20 normal age-matched subjects. Mitochondrial DNA damage in the 3 groups of subjects was evaluated using three novel mtDNA oxidative markers: mtDNA copy number, 4977bp deletion of mtDNA (mtDNA4977) and oxidative modification of mtDNA index (mtDNAΔCT) in leukocytes. Results: Decreased leukocyte mtDNA copy number, increased mtDNAΔCT value, and increased frequency of mtDNA4977 which correspond to the number of CAG repeats in the mutated androgen receptor gene, were found not only in SBMA patients but also in female carriers. Conclusions: Leukocyte mtDNA copy number, mtDNAΔCT and mtDNA4977 may serve as useful biomarkers of mtDNA damage and can be used to monitor SBMA disease progression.

AB - Background: Mitochondrial DNA (mtDNA) damage may be involved in the pathogenesis of spinal and bulbar muscular atrophy (SBMA). Methods: We recruited 20 SBMA patients, 20 SBMA female carriers, and 20 normal age-matched subjects. Mitochondrial DNA damage in the 3 groups of subjects was evaluated using three novel mtDNA oxidative markers: mtDNA copy number, 4977bp deletion of mtDNA (mtDNA4977) and oxidative modification of mtDNA index (mtDNAΔCT) in leukocytes. Results: Decreased leukocyte mtDNA copy number, increased mtDNAΔCT value, and increased frequency of mtDNA4977 which correspond to the number of CAG repeats in the mutated androgen receptor gene, were found not only in SBMA patients but also in female carriers. Conclusions: Leukocyte mtDNA copy number, mtDNAΔCT and mtDNA4977 may serve as useful biomarkers of mtDNA damage and can be used to monitor SBMA disease progression.

KW - Androgen receptor

KW - CAG repeat

KW - Mitochondrial DNA

KW - Oxidative stress

KW - SBMA

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U2 - 10.1016/j.cca.2009.12.007

DO - 10.1016/j.cca.2009.12.007

M3 - 文章

C2 - 20035733

AN - SCOPUS:77950420275

SN - 0009-8981

VL - 411

SP - 626

EP - 630

JO - Clinica Chimica Acta

JF - Clinica Chimica Acta

IS - 9-10

ER -

Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers

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Keywords

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