Mitochondrial disease heterogeneity: A prognostic challenge

Maurizio Moggio, Irene Colombo, Lorenzo Peverelli, Luisa Villa, Rubjona Xhani, Silvia Testolin, Salvatore Di Mauro, Monica Sciacco

Research output: Contribution to journalArticlepeer-review


Mitochondrial diseases are a heterogeneous group of progressive, genetically transmitted, multisystem disorders caused by impaired mitochondrial function. The disease course for individuals with mitochondrial myopathies varies greatly from patient to patient because disease progression largely depends on the type of disease and on the degree of involvement of various organs which makes the prognosis unpredictable both within the same family and among families with the same mutation. This is particularly, but not exclusively, true for mitochondrial disorders caused by mtDNA point mutations, which are maternally inherited and subject to the randomness of the heteroplasmy. For this reason, the prognosis cannot be given by single mitochondrial disease, but should be formulated by any single mitochondrial disease-related event or complication keeping in mind that early recognition and treatment of symptoms are crucial for the prognosis. The following approach can help prevent severe organ dysfunctions or at least allow early diagnosis and treatment of disease-related complications.

Original languageEnglish
Pages (from-to)86-93
Number of pages8
JournalActa Myologica
Issue number2
Publication statusPublished - Oct 1 2015


  • Clinical heterogeneity
  • Dual genetic control
  • Intrafamilial variability
  • Multisystem disorders

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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