Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease

被引：40

作者：

Nishioka, Kenya ^{[1
]}

Vilarino-Gueell, Carles ^{[1
]}

Cobb, Stephanie A. ^{[1
]}

Kachergus, Jennifer M. ^{[1
]}

Ross, Owen A. ^{[1
]}

Hentati, Emna ^{[1
]}

Hentati, Faycal ^{[2
]}

Farrer, Matthew J. ^{[1
]}

机构：

[1] Mayo Clin Jacksonville, Div Neurogenet, Dept Neurosci, Jacksonville, FL 32224 USA

[2] Inst Natl Neurol, Serv Neurol, Tunis, Tunisia

来源：

PARKINSONISM & RELATED DISORDERS | 2010年 / 16卷 / 10期

关键词：

Parkinson disease; NDUFV2; Mutation; Genetics; ALPHA-SYNUCLEIN; LRRK2; ASSOCIATION; FAMILIES; PINK1; 18P11;

D O I：

10.1016/j.parkreldis.2010.09.007

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

NADH dehydrogenase ubiquinone flavoprotein 2 (NDUFV2), encoding a subunit of mitochondria] complex I, is a candidate gene for several neuronal diseases; schizophrenia, bipolar disorder and Parkinson disease (PD). We screened the entire coding region of NDUFV2 in 33 familial PD patients of North African Arab-Berber ethnicity in which all known genetic forms of PD had been excluded. We detected one novel substitution p.K209R (c.626A > G) in one PD proband. Segregation analysis within the family is inconclusive due to small sample size, but consistent with an autosomal dominant mode of inheritance. Subsequent screening of this mutation in ethnically matched sporadic PD patients (n =238) and controls (n = 371) identified p.K209R in one additional patient. The clinical features of the mutation carriers revealed a mild form of parkinsonism with a prognosis similar to idiopathic PD. Our findings suggest further studies addressing the role of NDUFV2 variation in PD may be warranted. (C) 2010 Elsevier Ltd. All rights reserved.

引用

页码：686 / 687

页数：2

共 13 条

[1] Genetics of Parkinson disease: paradigm shifts and future prospects [J].

Farrer, MJ .

NATURE REVIEWS GENETICS, 2006, 7 (04) :306-318

[2] Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease [J].

Hattori, N ;

Yoshino, H ;

Tanaka, M ;

Suzuki, H ;

Mizuno, Y .

GENOMICS, 1998, 49 (01) :52-58

[3] Mitochondrial biology and oxidative stress in Parkinson disease pathogenesis [J].

Henchcliffe, Claire ;

Beal, M. Flint .

NATURE CLINICAL PRACTICE NEUROLOGY, 2008, 4 (11) :600-609

[4] WHAT FEATURES IMPROVE THE ACCURACY OF CLINICAL-DIAGNOSIS IN PARKINSONS-DISEASE - A CLINICOPATHOLOGICAL STUDY [J].

HUGHES, AJ ;

BENSHLOMO, Y ;

DANIEL, SE ;

LEES, AJ .

NEUROLOGY, 1992, 42 (06) :1142-1146

[5] LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study [J].

Hulihan, Mary M. ;

Ishihara-Paul, Lianna ;

Kochergus, Jennifer ;

Warren, Liling ;

Amouri, Rim ;

Elango, Ramu ;

Prinjha, Rab K. ;

Upmanyu, Ruchi ;

Kefi, Mounir ;

Zouari, Mourad ;

Ben Sassi, Samia ;

Ben Yahmed, Samia ;

El Euch-Fayeche, Ghada ;

Matthews, Paul M. ;

Middleton, Lefkos T. ;

Gibson, Rachel A. ;

Hentati, Faycal ;

Farrer, Matthew J. .

LANCET NEUROLOGY, 2008, 7 (07) :591-594

[6] Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families [J].

Ishihara, Lianna ;

Gibson, Rachel A. ;

Warren, Liling ;

Amouri, Rim ;

Lyons, Kelly ;

Wielinski, Catherine ;

Hunter, Christine ;

Swartz, Jina E. ;

Elango, Ramu ;

Akkari, P. Anthony ;

Leppert, David ;

Surh, Linda ;

Reeves, Kevin H. ;

Thomas, Siwan ;

Ragone, Leigh ;

Hattori, Nobutaka ;

Pahwa, Rajesh ;

Jankovic, Joseph ;

Nance, Martha ;

Freeman, Alan ;

Gouider-Khouja, Neziha ;

Kefi, Mounir ;

Zouari, Mourad ;

Ben Sassi, Sarnia ;

Ben Yahmed, Sarnia ;

El Euch-Fayeche, Ghada ;

Middleton, Lefkos ;

Burn, David J. ;

Watts, Ray L. ;

Hentati, Faycal .

MOVEMENT DISORDERS, 2007, 22 (01) :55-61

[7] PINK1 mutations and parkinsonism [J].

Ishihara-Paul, L. ;

Hulihan, M. M. ;

Kachergus, J. ;

Upmanyu, R. ;

Warren, L. ;

Amouri, R. ;

Elango, R. ;

Prinjha, R. K. ;

Soto, A. ;

Kefi, M. ;

Zouari, M. ;

Sassi, S. B. ;

Yahmed, S. B. ;

El Euch-Fayeche, G. ;

Matthews, P. M. ;

Middleton, L. T. ;

Gibson, R. A. ;

Hentati, F. ;

Farrer, M. J. .

NEUROLOGY, 2008, 71 (12) :896-902

[8] Calbindin 1, fibroblast growth factor 20, and α-synuclein in sporadic Parkinson's disease [J].

Mizuta, Ikuko ;

Tsunoda, Tatsuhiko ;

Satake, Wataru ;

Nakabayashi, Yuko ;

Watanabe, Masahiko ;

Takeda, Atsushi ;

Hasegawa, Kazuko ;

Nakashima, Kenji ;

Yamamoto, Mitsutoshi ;

Hattori, Nobutaka ;

Murata, Miho ;

Toda, Tatsushi .

HUMAN GENETICS, 2008, 124 (01) :89-94

[9] A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease [J].

Nishioka, Kenya ;

Kefi, Mounir ;

Jasinska-Myga, Barbara ;

Wider, Christian ;

Vilarino-Gueell, Carles ;

Ross, Owen A. ;

Heckman, Michael G. ;

Middleton, Lefkos T. ;

Ishihara-Paul, Lianna ;

Gibson, Rachel A. ;

Amouri, Rim ;

Ben Yahmed, Samia ;

Ben Sassi, Samia ;

Zouari, Mourad ;

El Euch, Ghada ;

Farrer, Matthew J. ;

Hentati, Faycal .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2010, 81 (04) :391-395

[10] Mutation in the alpha-synuclein gene identified in families with Parkinson's disease [J].

Polymeropoulos, MH ;

Lavedan, C ;

Leroy, E ;

Ide, SE ;

Dehejia, A ;

Dutra, A ;

Pike, B ;

Root, H ;

Rubenstein, J ;

Boyer, R ;

Stenroos, ES ;

Chandrasekharappa, S ;

Athanassiadou, A ;

Papapetropoulos, T ;

Johnson, WG ;

Lazzarini, AM ;

Duvoisin, RC ;

DiIorio, G ;

Golbe, LI ;

Nussbaum, RL .

SCIENCE, 1997, 276 (5321) :2045-2047

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