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[Morphological changes of mitochondrial myopathies]
A Cabello1, C Navarro, J R Ricoy
1Unidad de Neuropatología, Hospital Universitario 12 de Octubre, Madrid, España.
Abstract:
By means of the modified trichromic method of Gomori, introduced by Engel and Cunningham in 1963 [1], it has been possible to demonstrate the presence of ragged-red fibers (RRF) in the mitochondrial myopathies. At present, to study these disorders in muscle biopsies, one may also use morphological, ultrastructural, histochemical, fluorescent, immunological and molecular biology methods. However, the alterations thus demonstrated in striated muscle are not always present in all these diseases due to mitochondrial alterations. At the same time, the multisystemic nature of these diseases also implies alterations in the central nervous system.
Insights
Ragged-red fibers (RRF) in mitochondrial myopathies can be identified using Gomori
Area of Science:
- Neurology
- Pathology
- Genetics
Context:
- Mitochondrial myopathies are a group of complex genetic disorders affecting muscle and often other organ systems.
- Diagnosis traditionally relies on muscle biopsy, but challenges exist due to variable manifestation of mitochondrial alterations.
- The multisystemic nature of these diseases necessitates a broad diagnostic approach.
Purpose:
- To review the diagnostic methods for mitochondrial myopathies, focusing on ragged-red fibers (RRF).
- To highlight the utility and limitations of various histological and molecular techniques in identifying muscle and central nervous system alterations.
- To emphasize the importance of considering the systemic impact of mitochondrial diseases.
Summary:
- The modified Gomori trichrome stain is a key method for detecting ragged-red fibers (RRF) in mitochondrial myopathies.
- While morphological, histochemical, and molecular methods aid diagnosis, muscle biopsy findings are not universally present.
- Central nervous system involvement is common in these multisystemic disorders, requiring comprehensive evaluation.
Impact:
- Improved understanding of diagnostic challenges in mitochondrial myopathies.
- Highlights the need for integrated diagnostic strategies combining muscle and neurological assessments.
- Informs clinical practice for more accurate and timely diagnosis of these complex genetic conditions.