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

来源：

BIOSCIENCE REPORTS | 2007年 / 27卷 / 1-3期

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

页码：173 / 184

页数：12

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