Mitochondrial DNA and diseases of the nervous system: The spectrum

被引：33

作者：

DiMauro, S

Schon, EA

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Neurol, H Houston Merritt Clin Res Ctr Muscular Dystropy, New York, NY 10032 USA

[2] Columbia Univ Coll Phys & Surg, Dept Neurol, Dept Genet & Dev, New York, NY 10032 USA

来源：

NEUROSCIENTIST | 1998年 / 4卷 / 01期

关键词：

mitochondria; mitochondrial DNA (mtDNA); mitochondrial encephalomyopathies;

D O I：

10.1177/107385849800400113

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The past 9 years have witnessed the development of a new chapter in human pathology related to mutations in the "other genome" or the "25th chromosome," namely mitochondrial DNA (mtDNA). An astounding array of multisystemic disorders, almost always involving muscle and brain (mitochondrial encephalomyopathies) have been attributed to over 50 point mutations and a multitude of rearrangements in mtDNA. Here, we review the still expanding spectrum of proven or putative mtDNA-related disorders, and we try to explain some peculiarities of these diseases according to the new rules of "mitochondrial genetics."

引用

页码：53 / 63

页数：11

共 60 条

[11] RENAL TUBULAR INVOLVEMENT MIMICKING BARTTER-SYNDROME IN A PATIENT WITH KEARNS-SAYRE SYNDROME [J].

GOTO, Y ;

ITAMI, N ;

KAJII, N ;

TOCHIMARU, H ;

ENDO, M ;

HORAI, S .

JOURNAL OF PEDIATRICS, 1990, 116 (06) :904-910

[12] OCCURRENCE OF A MULTIPLE SCLEROSIS-LIKE ILLNESS IN WOMEN WHO HAVE A LEBERS HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL-DNA MUTATION [J].

HARDING, AE ;

SWEENEY, MG ;

MILLER, DH ;

MUMFORD, CJ ;

KELLARWOOD, H ;

MENARD, D ;

MCDONALD, WI ;

COMPSTON, DAS .

BRAIN, 1992, 115 :979-989

[13]

Hirano M, 1996, HDB MUSCLE DIS, P479

[14] DELETIONS OF MUSCLE MITOCHONDRIAL-DNA IN PATIENTS WITH MITOCHONDRIAL MYOPATHIES [J].

HOLT, IJ ;

HARDING, AE ;

MORGANHUGHES, JA .

NATURE, 1988, 331 (6158) :717-719

[15]

HOLT IJ, 1990, AM J HUM GENET, V46, P428

[16] MARKED INCREASE IN MITOCHONDRIAL-DNA DELETION LEVELS IN THE CEREBRAL-CORTEX OF HUNTINGTONS-DISEASE PATIENTS [J].

HORTON, TM ;

GRAHAM, BH ;

CORRALDEBRINSKI, M ;

SHOFFNER, JM ;

KAUFMAN, AE ;

BEAL, MF ;

WALLACE, DC .

NEUROLOGY, 1995, 45 (10) :1879-1883

[17] A SUBTYPE OF DIABETES-MELLITUS ASSOCIATED WITH A MUTATION OF MITOCHONDRIAL-DNA [J].

KADOWAKI, T ;

KADOWAKI, H ;

MORI, Y ;

TOBE, K ;

SAKUTA, R ;

SUZUKI, Y ;

TANABE, Y ;

SAKURA, H ;

AWATA, T ;

GOTO, Y ;

HAYAKAWA, T ;

MATSUOKA, K ;

KAWAMORI, R ;

KAMADA, T ;

HORAI, S ;

NONAKA, I ;

HAGURA, R ;

AKANUMA, Y ;

YAZAKI, Y .

NEW ENGLAND JOURNAL OF MEDICINE, 1994, 330 (14) :962-968

[18] Mitochondrial DNA and RNA processing in MELAS [J].

Kaufmann, P ;

Koga, Y ;

Shanske, S ;

Hirano, M ;

DiMauro, S ;

King, MP ;

Schon, EA .

ANNALS OF NEUROLOGY, 1996, 40 (02) :172-180

[19] RETINITIS PIGMENTOSA, EXTERNAL OPHTHALMOPLEGIA, AND COMPLETE HEART BLOCK - UNUSUAL SYNDROME WITH HISTOLOGIC STUDY IN ONE OF 2 CASES [J].

KEARNS, TP ;

SAYRE, GP .

ARCHIVES OF OPHTHALMOLOGY, 1958, 60 (02) :280-289

[20] DEFECTS IN MITOCHONDRIAL PROTEIN-SYNTHESIS AND RESPIRATORY-CHAIN ACTIVITY SEGREGATE WITH THE TRANSFER RNA(LEU)(UUR) MUTATION ASSOCIATED WITH MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES [J].

KING, MP ;

KOGA, Y ;

DAVIDSON, M ;

SCHON, EA .

MOLECULAR AND CELLULAR BIOLOGY, 1992, 12 (02) :480-490

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