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Mitochondrial dysfunction in mut methylmalonic acidemia

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Mitochondrial dysfunction in mut methylmalonic acidemia

Content Provider	PubMed Central
Author	Chandler, Randy J. Zerfas, Patricia M. Sara, Shanske Sloan, Jennifer Hoffmann, Victoria Dimauro, Salvatore Venditti, Charles P.
Copyright Year	2009
Abstract	Methylmalonic acidemia is an autosomal recessive inborn error of metabolism caused by defective activity of methylmalonyl-CoA mutase (MUT) that exhibits multiorgan system pathology. To examine whether mitochondrial dysfunction is a feature of this organic acidemia, a background-modified Mut-knockout mouse model was constructed and used to examine mitochondrial ultrastructure and respiratory chain function in the tissues that manifest pathology in humans. In parallel, the liver from a patient with mut methylmalonic acidemia was studied in a similar fashion. Megamitochondria formed early in life in the hepatocytes of the Mut −/− animals and progressively enlarged. Liver extracts prepared from the mutants at multiple time points displayed respiratory chain dysfunction, with diminished cytochrome c oxidase activity and reduced intracellular glutathione compared to control littermates. Over time, the exocrine pancreas and proximal tubules of the kidney also exhibited megamitochondria, and older mutant mice eventually developed tubulointerstitial renal disease. The patient liver displayed similar morphological and enzymatic findings as observed in the murine tissues. These murine and human studies establish that megamitochondria formation with respiratory chain dysfunction occur in a tissue-specific fashion in methylmalonic acidemia and suggest treatment approaches based on improving mitochondrial function and ameliorating the effects of oxidative stress.—Chandler, R. J., Zerfas, P. M., Shanske, S., Sloan, J., Hoffmann, V., DiMauro, S., Venditti, C. P. Mitochondrial dysfunction in mut methylmalonic acidemia.
Related Links	http://dx.doi.org/10.1096/fj.08-121848
Ending Page	1261
Page Count	10
Starting Page	1252
File Format	PDF
ISSN	08926638
e-ISSN	15306860
Journal	The FASEB Journal
Issue Number	4
Volume Number	23
Language	English
Publisher	The Federation of American Societies for Experimental Biology
Publisher Date	2009-04-01
Access Restriction	Open
Rights Holder	The Federation of American Societies for Experimental Biology
Subject Keyword	Biotechnology Genetics Biochemistry Molecular Biology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine Molecular Biology Biochemistry Biotechnology

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Mitochondrial dysfunction in mut methylmalonic acidemia

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