Diagnosis of MELAS involves a combination of clinical evaluation, genetic testing, and histopathological examination. Muscle biopsy is a key diagnostic tool in histology:
- Light Microscopy: Used to identify ragged red fibers and other structural abnormalities. - Electron Microscopy: Provides detailed images of mitochondrial abnormalities. - Enzyme Histochemistry: Staining for oxidative enzymes helps in identifying dysfunctional mitochondria.
Genetic testing is also crucial for diagnosing MELAS, as it often involves mutations in the mitochondrial DNA, particularly in the MT-TL1 gene.
