The unique neuroradiology of complex I deficiency due to NDUFA12L defect

被引：40

作者：

Barghuti, Flora ^{[2
]}

Elian, Khaled ^{[2
]}

Gomori, John Moshe ^{[3
]}

Shaag, Avraham ^{[1
]}

Edvardson, Simon ^{[1
]}

Saada, Ann ^{[1
]}

Elpeleg, Orly ^{[1
]}

机构：

[1] Hasassah Hebrew Univ Med Ctr, Metab Dis Unit, IL-91120 Jerusalem, Israel

[2] Al Mustaqbal Hosp, Ramallah, Palestine

[3] Hadassah Univ Hosp, Dept Radiol, IL-91120 Jerusalem, Israel

来源：

MOLECULAR GENETICS AND METABOLISM | 2008年 / 94卷 / 01期

关键词：

mitochondrial respiratory chain defect; complex I deficiency; NDUFA12L;

D O I：

10.1016/j.ymgme.2007.11.013

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In two patients who presented at late infancy with hypotonia, nystagmus and ataxia, interspersed with acute episodes of encephalopathy, we identified a mutation in a complex I assembly factor, NDUFA12L, which resulted in a marked reduction of the NDUFA12L protein and of complex I activity. The involvement of the mamillothalamic tracts, substantia nigra/medial lemniscus, medial longitudinal fasciculus. the corpus medullare and the cerebellum, with relative sparing of the cortex and subcortical white matter was distinctive and resembled the findings in the first and only known patient with mutation in the NDUFA12L gene. (c) 2007 Elsevier Inc. All rights reserved.

引用

页码：78 / 82

页数：5

共 15 条

[1] Clinical and molecular findings in children with complex I deficiency [J].

Bugiani, M ;

Invernizzi, F ;

Alberio, S ;

Briem, E ;

Lamantea, E ;

Carrara, F ;

Moroni, I ;

Farina, L ;

Spada, M ;

Donati, MA ;

Uziel, G ;

Zeviani, M .

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1659 (2-3) :136-147

[2] Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease [J].

Dunning, C. J. R. ;

McKenzie, M. ;

Sugiana, C. ;

Lazarou, M. ;

Silke, J. ;

Connelly, A. ;

Fletcher, J. M. ;

Kirby, D. M. ;

Thorburn, D. R. ;

Ryan, M. T. .

EMBO JOURNAL, 2007, 26 (13) :3227-3237

[3] Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia [J].

Edvardson, Simon ;

Shaag, Avraham ;

Kolesnikova, Olga ;

Gomori, John Moshe ;

Tarassov, Ivan ;

Einbinder, Tom ;

Saada, Ann ;

Elpeleg, Orly .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (04) :857-862

[4]

FEARNLEY IM, 2006, METHOD MOL BIOL, V357, P103

[5] Mitochondrial complex I: Structure, function and pathology [J].

Janssen, Rolf J. R. J. ;

Nijtmans, Leo G. ;

van den Heuvel, Lambert P. ;

Smeitink, Jan A. M. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (04) :499-515

[6] Respiratory chain complex I deficiency - An underdiagnosed energy generation disorder [J].

Kirby, DM ;

Crawford, M ;

Cleary, MA ;

Dahl, HHM ;

Dennett, X ;

Thorburn, DR .

NEUROLOGY, 1999, 52 (06) :1255-1264

[7] Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency [J].

Lebon, S ;

Chol, M ;

Benit, P ;

Mugnier, C ;

Chretien, D ;

Giurgea, I ;

Kern, I ;

Girardin, E ;

Hertz-Pannier, L ;

de Lonlay, P ;

Rötig, A ;

Rustin, P ;

Munnich, A .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (12) :896-899

[8] De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency [J].

McFarland, R ;

Kirby, DM ;

Fowler, KJ ;

Ohtake, A ;

Ryan, MT ;

Amor, DJ ;

Fletcher, JM ;

Dixon, JW ;

Collins, FA ;

Turnbull, DM ;

Taylor, RW ;

Thorburn, DR .

ANNALS OF NEUROLOGY, 2004, 55 (01) :58-64

[9] A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy [J].

Ogilvie, I ;

Kennaway, NG ;

Shoubridge, EA .

JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (10) :2784-2792

[10] Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency [J].

Saada, A ;

Bar-Meir, M ;

Belaiche, C ;

Miller, C ;

Elpeleg, O .

ANALYTICAL BIOCHEMISTRY, 2004, 335 (01) :66-72

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