ABSENCE OF THE MITOCHONDRIAL A7237T MUTATION IN PARKINSONS-DISEASE

被引：23

作者：

LUCKING, CB ^{[1
]}

KOSEL, S ^{[1
]}

MEHRAEIN, P ^{[1
]}

GRAEBER, MB ^{[1
]}

机构：

[1] UNIV MUNICH,INST NEUROPATHOL,MOLEC NEUROPATHOL LAB,D-80337 MUNICH,GERMANY

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1995年 / 211卷 / 02期

关键词：

D O I：

10.1006/bbrc.1995.1868

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：

In recent years much has been speculated about a pathogenic role of mitochondrial defects in Parkinson's disease. Ozawa et al. (BBRC 176, 938-946, 1991) have described an A/T transversion at nucleotide 7237 of mitochondrial DNA affecting cytochrome-c-oxidase (complex IV) of the respiratory chain that could contribute to the pathogenesis of PD. Employing PCR based genomic sequencing and restriction enzyme analysis on 19 cases of Lewy-body parkinsonism, we exclude this mutation as a common cause of Parkinson's disease. This demonstrates the need for systematic sequencing of the mitochondrial genome in a large number of histologically verified cases of Parkinson's disease. (C) 1995 Academic Press, Inc.

引用

页码：700 / 704

页数：5

共 18 条

[1] NEUROPATHOLOGICAL STAGING OF ALZHEIMER LESIONS AND INTELLECTUAL STATUS IN ALZHEIMERS AND PARKINSONS-DISEASE PATIENTS [J].

BANCHER, C ;

BRAAK, H ;

FISCHER, P ;

JELLINGER, KA .

NEUROSCIENCE LETTERS, 1993, 162 (1-2) :179-182

[2] MITOCHONDRIAL INVOLVEMENT IN PARKINSONS-DISEASE - THE CONTROVERSY CONTINUES [J].

DIMAURO, S .

NEUROLOGY, 1993, 43 (11) :2170-2172

[3] THE RELEVANCE OF THE LEWY BODY TO THE PATHOGENESIS OF IDIOPATHIC PARKINSONS-DISEASE [J].

GIBB, WRG ;

LEES, AJ .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1988, 51 (06) :745-752

[4] POINT MUTATIONS OF MITOCHONDRIAL GENOME IN PARKINSONS-DISEASE [J].

IKEBE, S ;

TANAKA, M ;

OZAWA, T .

MOLECULAR BRAIN RESEARCH, 1995, 28 (02) :281-295

[5] UNALTERED ACONITASE ACTIVITY, BUT DECREASED COMPLEX-I ACTIVITY IN SUBSTANTIA-NIGRA PARS-COMPACTA OF PATIENTS WITH PARKINSONS-DISEASE [J].

JANETZKY, B ;

HAUCK, S ;

YOUDIM, MBH ;

RIEDERER, P ;

JELLINGER, K ;

PANTUCEK, F ;

ZOCHLING, R ;

BOISSL, KW ;

REICHMANN, H .

NEUROSCIENCE LETTERS, 1994, 169 (1-2) :126-128

[6] A MITOCHONDRIAL-DNA MUTATION AT NUCLEOTIDE PAIR-14459 OF THE NADH DEHYDROGENASE SUBUNIT-6 GENE ASSOCIATED WITH MATERNALLY INHERITED LEBER HEREDITARY OPTIC NEUROPATHY AND DYSTONIA [J].

JUN, AS ;

BROWN, MD ;

WALLACE, DC .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (13) :6206-6210

[7]

KOSEL S, 1994, ACTA NEUROPATHOL, V88, P19

[8] NONRADIOACTIVE DIRECT SEQUENCING OF PCR PRODUCTS AMPLIFIED FROM NEUROPATHOLOGICAL SPECIMENS [J].

KOSEL, S ;

GRAEBER, MB .

BRAIN PATHOLOGY, 1993, 3 (04) :421-424

[9] NORMAL MITOCHONDRIAL GENOME IN BRAIN FROM PATIENTS WITH PARKINSONS-DISEASE AND COMPLEX-I DEFECT [J].

LESTIENNE, P ;

NELSON, J ;

RIEDERER, P ;

JELLINGER, K ;

REICHMANN, H .

JOURNAL OF NEUROCHEMISTRY, 1990, 55 (05) :1810-1812

[10] QUANTITATION OF A MITOCHONDRIAL-DNA DELETION IN PARKINSONS-DISEASE [J].

MANN, VM ;

COOPER, JM ;

SCHAPIRA, AHV .

FEBS LETTERS, 1992, 299 (03) :218-222

← 1 2 →