MERRF occurs from a defect in mitochondrial genes that leads to mitochondrial dysfunction. These are either sporadic or germline mutations, and are maternally transmitted.
This is a key pathway which uses a transmembrane proton pump gradient to generate ATP. When this system is impaired, such as in MERRF, cells are unable to produce adequate ATP.
This disease usually presents in young adults.
Myoclonic epilepsy is characterized abnormal jerks involving a muscle or groups of muscles. This is due to abnormal electrical activity in the brain and is a form of seizure. Patients experiencing myoclonic epilepsy remain conscious.
Dementia is neurocognitive symptom involving memory loss, and is a long term complication of MERRF.
Ataxia in patients with MERRF leads to difficulties with balance and ambulation.
Muscle biopsies stained with Masson's Trichrome stain will reveal ragged red fibers surrounding the muscle fibers. These fibers are made up of aggregates of dead mitochondria.
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