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Brain metabolism is abnormal in the mdx model of Duchenne muscular dystrophy

I Tracey1, J F Dunn, G K Radda

  • 1Department of Biochemistry, Oxford University, UK.

Brain : a Journal of Neurology
|June 1, 1996
PubMed

Insights

Duchenne muscular dystrophy (DMD) brain shows altered energy metabolism, with increased inorganic phosphate and pH. These biochemical changes in the brain may contribute to cognitive deficits in DMD patients and mdx mice.

Area of Science:

  • Biochemistry
  • Neuroscience
  • Genetics

Background:

  • Duchenne muscular dystrophy (DMD) is an X-linked disorder causing muscle weakness and often cognitive impairment.
  • Dystrophin deficiency affects both skeletal muscle and the central nervous system (CNS) in DMD patients and mdx mice.
  • Previous studies using 31P-magnetic resonance spectroscopy (MRS) identified skeletal muscle abnormalities in DMD and mdx models.

Purpose of the Study:

  • To investigate cerebral metabolism in mdx mice using 31P-MRS.
  • To identify biochemical abnormalities in the brain of mdx mice.
  • To correlate brain biochemical changes with cognitive function in DMD.

Main Methods:

  • In vivo 31P-MRS was employed to analyze brain metabolism in mdx mice.
  • Metabolite and enzyme analyses were conducted on cerebral tissue.
  • Comparison of biochemical parameters between mdx mice and control groups.

Main Results:

  • Increased inorganic phosphate (Pi)/phosphocreatine (PCr) ratio and pH were observed in mdx brains.
  • Reduced total creatine and altered intracellular/extracellular volumes were found in mdx brains.
  • No significant differences in glycolytic or mitochondrial enzyme activities were detected.

Conclusions:

  • Cerebral energy metabolism is altered in mdx mice, mirroring some muscle changes in DMD.
  • Biochemical brain alterations may underlie the cognitive deficits observed in mdx mice and some DMD children.
  • Further research is needed to fully understand the link between DMD and cognitive impairment.

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