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 journalArticle

64 Citations (Scopus)

Abstract

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
Volume2
Issue number2
StatePublished - Dec 1 1992
Externally publishedYes

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Mitochondrial Encephalomyopathies
Mitochondrial DNA
Muscles
Mutation
Electron Transport
Allergy and Immunology
Biochemistry
In Situ Hybridization
Molecular Biology
Mitochondria
Electrons
Biopsy
Peptides
Enzymes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)

Cite this

Bonilla, E., Sciacco, M., Tanji, K., Sparaco, M., Petruzzella, V., & Moraes, C. T. (1992). New morphological approaches to the study of mitochondrial encephalomyopathies. Brain Pathology, 2(2), 113-119.

New morphological approaches to the study of mitochondrial encephalomyopathies. / Bonilla, Eduardo; Sciacco, Monica; Tanji, Kuranai; Sparaco, Marco; Petruzzella, Vittoria; Moraes, Carlos T.

In: Brain Pathology, Vol. 2, No. 2, 01.12.1992, p. 113-119.

Research output: Contribution to journalArticle

Bonilla, E, Sciacco, M, Tanji, K, Sparaco, M, Petruzzella, V & Moraes, CT 1992, 'New morphological approaches to the study of mitochondrial encephalomyopathies', Brain Pathology, vol. 2, no. 2, pp. 113-119.
Bonilla E, Sciacco M, Tanji K, Sparaco M, Petruzzella V, Moraes CT. New morphological approaches to the study of mitochondrial encephalomyopathies. Brain Pathology. 1992 Dec 1;2(2):113-119.
Bonilla, Eduardo ; Sciacco, Monica ; Tanji, Kuranai ; Sparaco, Marco ; Petruzzella, Vittoria ; Moraes, Carlos T. / New morphological approaches to the study of mitochondrial encephalomyopathies. In: Brain Pathology. 1992 ; Vol. 2, No. 2. pp. 113-119.
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