Mitochondrial conditions

Mitochondria play a central role in cellular energy production.

Variants in mitochondrial DNA, or in nuclear genes that affect mitochondrial function, can lead to complex, multi-system conditions. As mitochondria fuel your brain, muscles and metabolism, mitochondrial disorders may present with:

  • Muscle weakness or exercise intolerance
  • Neurological symptoms
  • Metabolic irregularities
  • Combinations of symptoms that do not fit a single, straightforward diagnosis

The symptoms can be subtle and variable. As a result, many patients are told that their symptoms are “too non‑specific” for further investigation.

However, mitochondrial disorders are more common than previously thought. A careful evaluation can help to establish whether genetic testing is appropriate, and which type would be the most informative.

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donkey explains mitochondria