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Mitochondrial myopathies.

Salvatore DiMauro1

  • 1Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA. sd12@columbia.edu

Current Opinion in Rheumatology
|October 21, 2006
PubMed
Summary
This summary is machine-generated.

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Mitochondrial myopathies, caused by defects in the mitochondrial respiratory chain, affect skeletal muscle. Recent discoveries highlight nuclear and mitochondrial DNA mutations, impacting energy production and causing symptoms like exercise intolerance and weakness.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Mitochondrial diseases are increasingly understood, with a focus on defects in the mitochondrial respiratory chain.
  • Skeletal muscle is frequently involved in these disorders.

Purpose of the Study:

  • To provide the latest information on mitochondrial disorders affecting skeletal muscle.
  • To review recent advancements in understanding mitochondrial myopathies.

Main Methods:

  • Review of current literature on mitochondrial myopathies.
  • Analysis of genetic defects (nuclear and mitochondrial DNA) and their clinical manifestations.

Main Results:

  • Newly identified mitochondrial myopathies stem from nuclear DNA defects, including coenzyme Q10 deficiency and mutations in genes regulating mitochondrial DNA (e.g., POLG, TK2, MPV17).

Related Experiment Videos

  • Barth syndrome, an X-linked disorder, involves cardiolipin alterations and potential secondary respiratory chain impairment.
  • Mutations in mitochondrial DNA protein-coding and tRNA genes are confirmed causes of myopathies, with tRNA mutations sometimes occurring homoplasmically.

    • Conclusions:

    • Mitochondrial respiratory chain defects disrupt energy production, invariably affecting skeletal muscle.
    • Clinical presentations include exercise intolerance, cramps, myoglobinuria, and progressive weakness, often with ptosis and ophthalmoplegia.