Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.

doi:10.1073/pnas.1302764110

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Article

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.

Proceedings of the National Academy of Sciences of the United States of America - 13 Aug 2013

Manoli Irini, Sysol Justin R, Li Lingli, Houillier Pascal, Garone Caterina, Wang Cindy, Zerfas Patricia M, Cusmano-Ozog Kristina, Young Sarah, Trivedi Niraj S, Cheng Jun, Sloan Jennifer L, Chandler Randy J, Abu-Asab Mones, Tsokos Maria, Elkahloun Abdel G, Rosen Seymour, Enns Gregory M, Berry Gerard T, Hoffmann Victoria, DiMauro Salvatore, Schnermann Jurgen, Venditti Charles P

Abstract excerpt

Isolated methylmalonic acidemia (MMA), caused by deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT), is often complicated by end stage renal disease that is resistant to conventional therapies, including liver transplantation. To establish a viable model of MMA renal disease, Mut was expressed in the liver of Mut(-/-) mice as a stable transgene under the control of an albumin (INS-Alb-Mut)...

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PMID: 23898205
DOI: 10.1073/pnas.1302764110
PMCID: PMC3746875

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