mitochondrial diseases

How Do Mitochondrial Diseases Present Histologically?

Histologically, mitochondrial diseases can manifest in various ways depending on the affected tissue. Some common histological features include:
- Ragged Red Fibers: Observed in muscle biopsies stained with modified Gomori trichrome, these fibers indicate abnormal accumulations of mitochondria.
- Cytoplasmic Inclusions: Accumulation of abnormal mitochondrial or residual bodies can be seen in affected cells.
- Oxidative Enzyme Activity: Decreased cytochrome c oxidase (COX) activity can be demonstrated using histochemical staining techniques.

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