New morphological approaches to the study of mitochondrial encephalomyopathies

Eduardo Bonilla, Monica Sciacco, Kuranai Tanji, Marco Sparaco, Vittoria Petruzzella, Carlos T. Moraes

Research output: Contribution to journalArticlepeer-review


Molecular genetics, biochemistry, immunology and morphology, are being applied in a coordinated fashion to unveil the molecular basis of the mitochondrial encephalomyopathies. Mutations of mitochondrial DNA (mtDNA) have been found in well characterized clinical groups of these disorders. New and old morphologic methods have been applied to investigate muscle biopsies from patients with mtDNA mutations. Important observations have been made on the cellular localization of normal and mutated mtDNA and on the expression of mtDNA-encoded polypeptides. These observations have provided insight into the pathogenesis of respiratory chain enzyme deficiency at the level of individual muscle fibers. Application of immunocytochemical and in situ hybridization techniques at the electron microscopic level will extend these studies to the level of individual mitochondria.

Original languageEnglish
Pages (from-to)113-119
Number of pages7
JournalBrain Pathology
Issue number2
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)


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