A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

被引：32
作者：
Cassandrini, D
Calevo, MG
Tessa, A
Manfredi, G
Fattori, F
Meschini, MC
Carrozzo, R
Tonoli, E
Pedemonte, M
Minetti, C
Zara, F
Santorelli, FM
Bruno, C [1 ]
机构：
[1] Univ Genoa, Unit Muscular & Neurodegenerat Dis, I-16126 Genoa, Italy
[2] G Gaslini Inst Children, Serv Epidemiol & Biostat, Genoa, Italy
[3] Bambino Gesu Pediat Hosp, IRCCS, Mol Med Unit, Rome, Italy
[4] Cornell Univ, Dept Neurosci, Ithaca, NY 14853 USA
来源：
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2006年 / 342卷 / 02期
关键词：
mtDNA; heteroplasmy; mitochondria; SNaPshot technology;
D O I：
10.1016/j.bbrc.2006.01.152
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Determination of mitochondrial DNA (mtDNA) heteroplasmy for the diagnosis of patients with mitochondrial disorders is a difficult task due to the coexistence of wild-type and mutant genomes. We have developed a new method for genotyping and quantification of heteroplasmic point mutations in mtDNA based on the SNaPshot technology. We compared the data of this method with the widely used "last hot-cycle" PCR-RFLP method by studying 15 patients carrying mtDNA mutations. We showed that SNaPshot is an accurate, reproducible, and sensitive technique for the determination of heteroplasmic. mtDNA mutations in different tissues from patients, and it is a promising system to be used in prenatal and postnatal diagnosis of mtDNA-associated disorders. (c) 2006 Elsevier Inc. All rights reserved.
引用
收藏
页码：387 / 393
页数：7
相关论文
共 21 条
[1]   Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: A single-step approach [J].
Bai, RK ;
Wong, LJC .
CLINICAL CHEMISTRY, 2004, 50 (06) :996-1001
[2]   Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography [J].
Biggin, A ;
Henke, R ;
Bennetts, B ;
Thorburn, DR ;
Christodoulou, J .
MOLECULAR GENETICS AND METABOLISM, 2005, 84 (01) :61-74
[3]   MELAS - CLINICAL-FEATURES, BIOCHEMISTRY, AND MOLECULAR-GENETICS [J].
CIAFALONI, E ;
RICCI, E ;
SHANSKE, S ;
MORAES, CT ;
SILVESTRI, G ;
HIRANO, M ;
SIMONETTI, S ;
ANGELINI, C ;
DONATI, MA ;
GARCIA, C ;
MARTINUZZI, A ;
MOSEWICH, R ;
SERVIDEI, S ;
ZAMMARCHI, E ;
BONILLA, E ;
DEVIVO, DC ;
ROWLAND, LP ;
SCHON, EA ;
DIMAURO, S .
ANNALS OF NEUROLOGY, 1992, 31 (04) :391-398
[4]   Changes in mitochondrial DNA as a marker of nucleoside toxicity in HIV-infected patients [J].
Coté, HCF ;
Brumme, ZL ;
Craib, KJP ;
Alexander, CS ;
Wynhoven, B ;
Ting, LL ;
Wong, H ;
Harris, M ;
Harrigan, PR ;
O'Shaughnessy, MV ;
Montaner, JSG .
NEW ENGLAND JOURNAL OF MEDICINE, 2002, 346 (11) :811-820
[5]   Mechanisms of disease: Mitochondrial respiratory-chain diseases [J].
DiMauro, S ;
Schon, EA .
NEW ENGLAND JOURNAL OF MEDICINE, 2003, 348 (26) :2656-2668
[6]   Typing single-nucleotide polymorphisms using a gel-based sequencer - A new data analysis tool and suggestions for improved efficiency [J].
Jungerius, BJ ;
Veenendaal, A ;
van Oost, BA ;
Pas, MFWT ;
Groenen, MAM .
MOLECULAR BIOTECHNOLOGY, 2003, 25 (03) :283-287
[7]   Single nucleotide extension technology for quantitative site-specific-evaluation of metC/C in GC-rich regions [J].
Kaminsky, ZA ;
Assadzadeh, AA ;
Flanagan, J ;
Petronis, A .
NUCLEIC ACIDS RESEARCH, 2005, 33 (10) :1-12
[8]   HUMAN-CELLS LACKING MTDNA - REPOPULATION WITH EXOGENOUS MITOCHONDRIA BY COMPLEMENTATION [J].
KING, MP ;
ATTARDI, G .
SCIENCE, 1989, 246 (4929) :500-503
[9]   Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology [J].
Mashima, Y ;
Nagano, M ;
Funayama, T ;
Zhang, Q ;
Egashira, T ;
Kudho, J ;
Shimizu, N ;
Oguchi, Y .
CLINICAL BIOCHEMISTRY, 2004, 37 (04) :268-276
[10]   Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype [J].
Melone, MAB ;
Tessa, A ;
Petrini, S ;
Lus, G ;
Sampaolo, S ;
di Fede, G ;
Santorelli, FM ;
Cotrufo, R .
ARCHIVES OF NEUROLOGY, 2004, 61 (02) :269-272
123