Mitochondrial optic neuropathies: How two genomes may kill the same cell type?

被引:63
作者
Carelli, Valerio [1 ]
La Morgia, Chiara [1 ]
Iommarini, Luisa [1 ]
Carroccia, Rosanna [1 ]
Mattiazzi, Marina [1 ]
Sangiorgi, Simonetta [1 ]
Farne', Sabrina [1 ]
Maresca, Alessandra [1 ]
Foscarini, Beatrice [1 ]
Lanzi, Lucia [1 ]
Amadori, Marcello [1 ]
Bellan, Marzio [1 ]
Valentino, Maria Lucia [1 ]
机构
[1] Univ Bologna, Dept Neurol Sci, Neurogenet Lab, I-40123 Bologna, Italy
关键词
mitochondrial diseases; Leber's hereditary optic neuropathy; dominant optic atrophy; retinal ganglion cells;
D O I
10.1007/s10540-007-9045-0
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Ocular involvement is a prevalent feature in mitochondrial diseases. Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are both non-syndromic optic neuropathies with a mitochondrial etiology. LHON is associated with point mutations in the mitochondrial DNA (mtDNA), which affect subunit genes of complex I. The majority of DOA patients harbor mutations in the nuclear-encoded protein OPA1, which is targeted to mitochondria and participates to cristae organization and mitochondrial network dynamics. In both disorders the retinal ganglion cells (RGCs) are specific cellular targets of the degenerative process. We here review the clinical features and the genetic bases, and delineate the possible common pathomechanism for both these disorders.
引用
收藏
页码:173 / 184
页数:12
相关论文
共 74 条
[11]   X-CHROMOSOME-LINKED AND MITOCHONDRIAL GENE-CONTROL OF LEBER HEREDITARY OPTIC NEUROPATHY - EVIDENCE FROM SEGREGATION ANALYSIS FOR DEPENDENCE ON X-CHROMOSOME INACTIVATION [J].
BU, XD ;
ROTTER, JI .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (18) :8198-8202
[12]   Haplogroup effects and recombination of mitochondrial DNA: Novel clues from the analysis of Leber hereditary optic neuropathy pedigrees [J].
Carelli, V ;
Achilli, A ;
Valentino, ML ;
Rengo, C ;
Semino, O ;
Pala, M ;
Olivieri, A ;
Mattiazzi, M ;
Pallotti, F ;
Carrara, F ;
Zeviani, M ;
Leuzzi, V ;
Carducci, C ;
Valle, G ;
Simionati, B ;
Mendieta, L ;
Salomao, S ;
Belfort, R ;
Sadun, AA ;
Torroni, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (04) :564-574
[13]   Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration [J].
Carelli, V ;
Rugolo, M ;
Sgarbi, G ;
Ghelli, A ;
Zanna, C ;
Baracca, A ;
Lenaz, G ;
Napoli, E ;
Martinuzzi, A ;
Solaini, G .
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1658 (1-2) :172-179
[14]   Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction [J].
Carelli, V ;
Giordano, C ;
d'Amati, G .
TRENDS IN GENETICS, 2003, 19 (05) :257-262
[15]   Mitochondrial dysfunction as a cause of optic neuropathies [J].
Carelli, V ;
Ross-Cisneros, FN ;
Sadun, AA .
PROGRESS IN RETINAL AND EYE RESEARCH, 2004, 23 (01) :53-89
[16]  
Carelli V, 2006, MITOCHONDRIAL MED, P105
[17]   Disruption of fusion results in mitochondrial heterogeneity and dysfunction [J].
Chen, HC ;
Chomyn, A ;
Chan, DC .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2005, 280 (28) :26185-26192
[18]   Critical dependence of neurons on mitochondrial dynamics [J].
Chen, Hsiuchen ;
Chan, David C. .
CURRENT OPINION IN CELL BIOLOGY, 2006, 18 (04) :453-459
[19]  
Chinnery PF, 2000, ANN NEUROL, V48, P188, DOI 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.3.CO
[20]  
2-G