Kearns-Sayre Syndrome and Mitochondrial Disease Genetics

Learn about Kearns-Sayre Syndrome in this 10-minute medical video exploring the genetic complexities of mitochondrial diseases. Delve into the characteristics of this oculocraniosomatic disorder, including retinal pigment abnormalities, eye pain, and paralysis of extraocular muscles (EOMs). Understand the mitochondrial inheritance patterns, including the unique maternal inheritance of mitochondrial DNA and its higher mutation rate compared to nuclear DNA. Explore related hereditary mitochondrial diseases such as Leber Hereditary Optic Neuropathy, MELAS, and MERRF, while gaining insights into heteroplasmy and its role in variable disease expression. Master the connections between mitochondrial dysfunction and its impacts on oxygen metabolism, cardiac function, and muscle tissue manifestations like ragged-red fibers.