Hepatocyte transplantation improves phenotype and extends survival in a murine model of intermediate maple syrup urine disease

Mol Ther. 2009 Jul;17(7):1266-73. doi: 10.1038/mt.2009.99. Epub 2009 May 12.

Abstract

Maple syrup urine disease (MSUD; OMIM 248600) is an inborn error of metabolism of the branched chain alpha-ketoacid dehydrogenase (BCKDH) complex that is treated primarily by dietary manipulation of branched-chain amino acids (BCAA). Dietary restriction is lifelong and compliance is difficult. Liver transplantation significantly improves outcomes; however, alternative therapies are needed. To test novel therapies such as hepatocyte transplantation (HTx), we previously created a murine model of intermediate MSUD (iMSUD), which closely mimics human iMSUD. LacZ-positive murine donor hepatocytes were harvested and directly injected (10(5) cells/50 microl) into liver of iMSUD mice (two injections at 1-10 days of age). Donor hepatocytes engrafted into iMSUD recipient liver, increased liver BCKDH activity, improved blood total BCAA/alanine ratio, increased body weight at weaning, and extended the lifespan of HTx-treated iMSUD mice compared to phosphate-buffered saline (PBS)-treated and untreated iMSUD mice. Based on these data demonstrating partial metabolic correction of iMSUD in a murine model, coupled to the fact that multiple transplants are possible to enhance these results, we suggest that HTx represents a promising therapeutic intervention for MSUD that warrants further investigation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) / metabolism
  • Animals
  • Body Weight
  • Cell- and Tissue-Based Therapy / methods*
  • Disease Models, Animal
  • Hepatocytes / transplantation*
  • Liver / metabolism
  • Maple Syrup Urine Disease / mortality*
  • Maple Syrup Urine Disease / pathology
  • Maple Syrup Urine Disease / therapy*
  • Mice
  • Phenotype
  • Polymerase Chain Reaction
  • Reverse Transcriptase Polymerase Chain Reaction
  • Survival Analysis

Substances

  • 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)