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Journal of Bioanalysis & Biomedicine

ISSN: 1948-593X

Open Access

Alternative Splicing and Nonsense Mediated Decay in Mitochondrial Complex-I Biogenesis and its Implication in Human Diseases

Abstract

Damiano Panelli, Francesca Paola Lorusso, Francesco Papa, Anna Maria Sardanelli and Sergio Papa

In mammals, complex-I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain has 31
supernumerary subunits in addition to the 14 conserved from prokaryotes to humans. Multiplicity of structural protein components, as well as of biogenesis factors, make complex-I a sensible pace-maker of mitochondrial respiration. The work reviewed here shows that the Alternative Splicing and Nonsense Mediated Decay pathways regulate the transcription products of different nuclear genes encoding subunits of complex I. Complex-I dysfunction has been found to be associated with several human diseases. Involvement of altered pattern of transcription products of complex-I genes in pathogenetic mechanisms of these diseases is examined.

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