Muscle Biopsy

The presence of ragged red fibers on muscle biopsy is classically synonymous with MELAS and other
mitochondrial cytopathies. Under microscopic examination, affected cells appear red with irregular borders after
Gomori Trichrome staining, thus giving the name “ragged red fibers”. This is due to the presence of numerous
subsarcolemmal basophilic inclusions, which is indicative of mitochondrial accu- mulation. On the other hand,
hematoxylin and eosin staining shows scattered vacu- olated muscle fibers with a clear surrounding rim and the same
ragged red fibers stain strongly for succinate dehydrogenase. As mentioned previously, succinate dehydrogenase
(complex II) is entirely comprised of nuclear-encoded protein sub- units and is therefore a good marker for the
compensatory mitochondrial prolifera- tion that seems to occur in MELAS and other mitochondrial cytopathies.