INHERITED IDIOPATHIC DILATED CARDIOMYOPATHY WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA

被引：135

作者：

SUOMALAINEN, A

PAETAU, A

LEINONEN, H

MAJANDER, A

PELTONEN, L

SOMER, H

机构：

[1] UNIV HELSINKI, DEPT PATHOL, SF-00100 HELSINKI 10, FINLAND

[2] UNIV HELSINKI, DEPT MED 1, SF-00100 HELSINKI 10, FINLAND

[3] UNIV HELSINKI, DEPT MED CHEM, SF-00100 HELSINKI 10, FINLAND

[4] UNIV HELSINKI, DEPT NEUROL, SF-00100 HELSINKI 10, FINLAND

来源：

LANCET | 1992年 / 340卷 / 8831期

关键词：

D O I：

10.1016/0140-6736(92)92496-3

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Idiopathic dilated cardiomyopathy (DCM) is often familial, but the pathogenetic mechanisms of DCM are unknown. We report a woman and her son who both died of DCM. The son's cardiac and skeletal muscles showed a high proportion of mitochondrial DNA (mtDNA) with multiple large deletions by Southern-blot hybridisation and polymerase chain reaction analyses. Amplification of the mother's cardiac mtDNA from 20-year-old paraffin-embedded sections showed that she also had deletions of mtDNA. These data suggest that a subgroup of inherited DCMs is associated with mtDNA mutations.

引用

页码：1319 / 1320

页数：2

共 10 条

[1] X-LINKED DILATED CARDIOMYOPATHY
BERKO, BA
SWIFT, M
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1987, 316 (19) : 1186 - 1191
[2] DETECTION OF A SPECIFIC MITOCHONDRIAL-DNA DELETION IN TISSUES OF OLDER HUMANS
CORTOPASSI, GA
ARNHEIM, N
[J]. NUCLEIC ACIDS RESEARCH, 1990, 18 (23) : 6927 - 6933
[3] CARDIOMYOPATHY WITH MITOCHONDRIAL-DNA MUTATIONS
HATTORI, K
OGAWA, T
KONDO, T
MOCHIZUKI, M
TANAKA, M
SUGIYAMA, S
ITO, T
SATAKE, T
OZAWA, T
[J]. AMERICAN HEART JOURNAL, 1991, 122 (03) : 866 - 869
[4] THE FREQUENCY OF FAMILIAL DILATED CARDIOMYOPATHY IN A SERIES OF PATIENTS WITH IDIOPATHIC DILATED CARDIOMYOPATHY
MICHELS, VV
MOLL, PP
MILLER, FA
TAJIK, AJ
CHU, JS
DRISCOLL, DJ
BURNETT, JC
RODEHEFFER, RJ
CHESEBRO, JH
TAZELAAR, HD
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1992, 326 (02) : 77 - 82
[5] MULTIPLE MITOCHONDRIAL-DNA DELETIONS EXIST IN CARDIOMYOCYTES OF PATIENTS WITH HYPERTROPHIC OR DILATED CARDIOMYOPATHY
OZAWA, T
TANAKA, M
SUGIYAMA, S
HATTORI, K
ITO, T
OHNO, K
TAKAHASHI, A
SATO, W
TAKADA, G
MAYUMI, B
YAMAMOTO, K
ADACHI, K
KOGA, Y
TOSHIMA, H
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 170 (02) : 830 - 836
[6] DETECTION OF HUMAN PAPILLOMA-VIRUS IN PARAFFIN-EMBEDDED TISSUE USING THE POLYMERASE CHAIN-REACTION
SHIBATA, DK
ARNHEIM, N
MARTIN, WJ
[J]. JOURNAL OF EXPERIMENTAL MEDICINE, 1988, 167 (01) : 225 - 230
[7] MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA IN SEVERAL TISSUES OF A PATIENT WITH SEVERE RETARDED DEPRESSION AND FAMILIAL PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
SUOMALAINEN, A
MAJANDER, A
HALTIA, M
SOMER, H
LONNQVIST, J
SAVONTAUS, ML
PELTONEN, L
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1992, 90 (01) : 61 - 66
[8] MITOCHONDRIAL MUTATION IN FATAL INFANTILE CARDIOMYOPATHY
TANAKA, M
INO, H
OHNO, K
HATTORI, K
SATO, W
OZAWA, T
TANAKA, T
ITOYAMA, S
[J]. LANCET, 1990, 336 (8728) : 1452 - 1452
[9] MATERNALLY INHERITED MYOPATHY AND CARDIOMYOPATHY - ASSOCIATION WITH MUTATION IN MITOCHONDRIAL-DNA TRANSFER RNALEU(UUR)
ZEVIANI, M
GELLERA, C
ANTOZZI, C
RIMOLDI, M
MORANDI, L
VILLANI, F
TIRANTI, V
DIDONATO, S
[J]. LANCET, 1991, 338 (8760) : 143 - 147
[10] AN AUTOSOMAL DOMINANT DISORDER WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA STARTING AT THE D-LOOP REGION
ZEVIANI, M
SERVIDEI, S
GELLERA, C
BERTINI, E
DIMAURO, S
DIDONATO, S
[J]. NATURE, 1989, 339 (6222) : 309 - 311

← 1 →