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A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
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Mouse models for methylmalonic aciduria.

Heidi L Peters1, James J Pitt, Leonie R Wood

  • 1Metabolic Research, Murdoch Childrens Research Institute, Department of Paediatrics University of Melbourne, Royal Children's Hospital, Parkville, Australia. heidi.peters@mcri.edu.au

Plos One
|July 14, 2012
PubMed
Summary
This summary is machine-generated.

This study developed a partial rescue mouse model for methylmalonic aciduria (MMA) by introducing a human gene. This model shows promise for investigating MMA

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Methylmalonic aciduria (MMA) is a severe organic acid metabolism disorder caused by methylmalonyl-CoA mutase (MCM) deficiency.
  • MMA leads to significant morbidity and mortality, necessitating effective therapies to prevent complications and improve patient quality of life.

Purpose of the Study:

  • To create and characterize a humanized mouse model for studying methylmalonic aciduria (MMA).
  • To evaluate the efficacy of a partial rescue strategy using a human MCM transgene in a mouse model of MMA.

Main Methods:

  • Generation of transgenic mice carrying a human MCM locus.
  • Crossing transgenic mice with MCM knockout mice to create hemizygous partial rescue models.
  • Biochemical analysis (methylmalonic acid levels, acylcarnitine profiles) and mRNA expression studies.

Main Results:

  • Partial rescue of neonatal lethality in MMA mice was achieved.
  • Rescued mice exhibited smaller size, elevated methylmalonic acid and propionylcarnitine levels, and human transgene expression in key tissues.
  • Fibroblast cultures showed reduced MCM enzyme activity compared to wild-type.

Conclusions:

  • The developed humanized partial rescue mouse model offers a valuable platform for studying MMA pathophysiology.
  • This model is anticipated to facilitate the investigation of novel therapeutic strategies, including cell transplantation, for MMA.