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Unveiling Intracellular Organelle Interaction with mitochondria in Leber hereditary optic neuropathy: Functional genomics approach

Investigador: Manuela Grazina
Instituição: Center for Neuroscience and Cell Biology – CNC, University of Coimbra

LHON is a maternally inherited optic atrophy with acute bilateral loss of central vision, mainly associated to specific mtDNA mutations, affecting MRC-complex I subunits. This study aims to provide new insights on mitochondria networks and alternatives routes for proteins transport into mitochondria.

   

Abstract

LHON is a maternally inherited optic atrophy with acute bilateral loss of central vision, mainly associated to specific mtDNA mutations, affecting MRC-complex I subunits. Preliminary studies from our laboratory, in the scope of the FCT project PTDC/DTP-EPI/0929/2012, show severe disruption of Golgi apparatus in LHON affected fibroblasts harbouring m.11778G>A variation, but not in a healthy relative carrying the same mutation, suggesting that endocytic pathway-mediated transport of mitochondrial proteins may be affected. The foremost goal of our project is to unveil the Golgi-mitochondrial crosstalk interaction concerning protein transport, since functional mitochondria need more than 1,000 nuclear encoded genes in addition to mtDNA-encoded components. The results will provide new insights on mitochondria networks and alternatives routes for proteins transport into mitochondria. Moreover, the data will be essential for understanding the most intriguing paradigm in LHON bigenomics: why maternal relatives of LHON patients do not develop clinical manifestations, despite of carrying a pathogenic mutation.

CONTACTOS

Faculdade de Farmácia da U.L.
Av. Prof. Gama Pinto
1649-003 Lisboa
Portugal

Contacto: Fernanda Asper
Telefone.: +351 217 946 400
Fax: +351 217 946 491
spdm@ff.ul.pt


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