CPEO and KSS differ in the percentage and location of the mtDNA deletion

被引：55

作者：

Lopez-Gallardo, Ester ^{[1
,4
]}

Lopez-Perez, Manuel J. ^{[1
,4
]}

Montoya, Julio ^{[1
,3
,4
]}

Ruiz-Pesini, Eduardo ^{[1
,2
,3
,4
]}

机构：

[1] Univ Zaragoza, Dept Bioquim Biol Mol & Celular, E-50013 Zaragoza, Spain

[2] Fdn ARAID, Zaragoza 50013, Spain

[3] Inst Aragones Ciencias Salud, Zaragoza 50013, Spain

[4] CIBERER, Zaragoza 50013, Spain

来源：

MITOCHONDRION | 2009年 / 9卷 / 05期

关键词：

mtDNA; Deletion; CPEO; KSS; PS; MITOCHONDRIAL-DNA DELETIONS; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; HUMAN-CELLS; REPLICATION; PATIENT;

D O I：

10.1016/j.mito.2009.04.005

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Disorders caused by single mtDNA deletions are quite rare in the general population. To understand the molecular mechanism by which they come about and try to correlate the type of deletion with the phenotype of the patients, a very large cohort of affected individuals needs to be studied. We have performed a meta-analysis of 313 deletions found in CPEO, KSS and PS patients. Our results indicate that the percentage and location of the deletion show differences between these syndromes. Thus, the moment when the deletion is produced probably not only determines the affected tissues and the phenotype, but also the percentage and location of the deletion. (C) 2009 Elsevier B. V. and Mitochondria Research Society. All rights reserved.

引用

页码：314 / 317

页数：4

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