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Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy
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Sleep Disorders in Mitochondrial Diseases.

Valerio Brunetti1, Giacomo Della Marca1,2, Serenella Servidei1,2

  • 1Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

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|May 5, 2021
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Summary

Sleep disorders are common in primary mitochondrial diseases, with sleep-disordered breathing being the most frequent. Clinical presentation influences the type of sleep disturbance, necessitating polysomnography for management.

Keywords:
MitochondriaMitochondrial diseaseObstructive sleep apneaSleepSleep disordersSleep-disordered breathing

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Area of Science:

  • Neurology
  • Genetics
  • Sleep Medicine

Background:

  • Primary mitochondrial diseases are genetic disorders affecting cellular energy production.
  • Sleep disturbances are frequently reported in patients with mitochondrial dysfunction.
  • Understanding sleep issues is crucial for managing these complex conditions.

Purpose of the Study:

  • To summarize sleep disorders in primary mitochondrial diseases.
  • To correlate sleep disturbances with clinical and molecular characteristics.
  • To highlight the importance of sleep assessment in mitochondrial patients.

Main Methods:

  • Literature review of studies on sleep disorders in primary mitochondrial diseases.
  • Analysis of associations between sleep disorders and patient phenotypes.
  • Synthesis of clinical and molecular data related to sleep disturbances.

Main Results:

  • Sleep-disordered breathing is the predominant sleep disorder in mitochondrial diseases.
  • Obstructive sleep apnea (OSA) is linked to skeletal muscle involvement.
  • Central sleep apnea (CSA) is associated with central nervous system involvement.
  • Restless legs syndrome is rarely reported.

Conclusions:

  • Sleep disorders are prevalent and varied in primary mitochondrial diseases.
  • Clinical phenotypes significantly influence the type of sleep disturbance.
  • Polysomnography is essential for diagnosis and monitoring due to adverse outcomes.