Journal of Bioenergetics and Biomembranes

, Volume 43, Issue 1, pp 39–46

Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia

Authors

  • Daniela R. Melo
    • Departamento de Patologia Clínica, Faculdade de Ciências MédicasUniversidade Estadual de Campinas
  • Alicia J. Kowaltowski
    • Departamento de Bioquímica, Instituto de QuímicaUniversidade de São Paulo
  • Moacir Wajner
    • Departamento de Bioquímica, Instituto de Ciências Básicas da SaúdeUniversidade Federal do Rio Grande do Sul
    • Departamento de Patologia Clínica, Faculdade de Ciências MédicasUniversidade Estadual de Campinas
Article

DOI: 10.1007/s10863-011-9330-2

Cite this article as:
Melo, D.R., Kowaltowski, A.J., Wajner, M. et al. J Bioenerg Biomembr (2011) 43: 39. doi:10.1007/s10863-011-9330-2

Abstract

Methylmalonic acidemia is one of the most prevalent inherited metabolic disorders involving neurological deficits. In vitro experiments, animal model studies and tissue analyses from human patients suggest extensive impairment of mitochondrial energy metabolism in this disease. This review summarizes changes in mitochondrial energy metabolism occurring in methylmalonic acidemia, focusing mainly on the effects of accumulated methylmalonic acid, and gives an overview of the results found in different experimental models. Overall, experiments to date suggest that mitochondrial impairment in this disease occurs through a combination of the inhibition of specific enzymes and transporters, limitation in the availability of substrates for mitochondrial metabolic pathways and oxidative damage.

Keywords

Central nervous systemMethylmalonic acidMitochondriaNeurodegenerationOrganic acidemiasOxidative metabolism

Copyright information

© Springer Science+Business Media, LLC 2011