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New Morphological Approaches to the Study of Mitochondrial Encephalomyopathies
Author(s) -
Bonilla Eduardo,
Sciacco Monica,
Tanji Kuranai,
Sparaco Marco,
Petruzzella Vittoria,
Moraes Carlos T.
Publication year - 1992
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/j.1750-3639.1992.tb00679.x
Subject(s) - mitochondrial encephalomyopathies , mitochondrial dna , biology , computational biology , mitochondrial myopathy , genetics , pathology , medicine , gene
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.

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