Topics and Speakers Salvatore DiMauro, M.D.
| ||||||
Synopsis
Mitochondria, bacteria-derived organelles which power the metabolic activity of all cells in the body, contain their own DNA separate from the main cell. In this lecture Professor Salvatore DiMauro discusses the structure and function of normal mitochondria, the unique, non-Mendelian rules of mitochondrial genetics, and how genetic disorders of the mitochondria occur. After first reviewing how energy production occurs in mitochondria of the normal cell, DiMauro describes how this respiratory chain is the only cellular process that requires the dual interaction of both nuclear and mitochondrial DNA. Thus, mutations in either genome can cause mitochondrial disorders.
DiMauro describes the signs and symptoms of mitochondrial disorders by discussing some notable case studies. In the very rare Luft's syndrome, patients present with severe hypermetabolism; at the cellular level, their mitochondria respire wildly and waste the excess energy as heat. In Kearns-Sayre syndrome, patients have problems with mitochondrial DNA replication. Other patients have problems with mitochondrial translation, with pathologies of the cellular lipid milieu, and problems of motility, and fusion or fission of the mitochondria. For all these disorders, DiMauro offers a wealth of clinical information critical to an up-to-date understanding of this exceptional organelle.
