Salvatore DiMauro, MD
Trustee

Salvatore DiMauro, M.D., was born in Verona, Italy, graduated from the University of Padua medical school in 1963, and completed his residency in neurology in 1966. He then completed a postdoctoral fellowship in the Department of Neurology at the University of Pennsylvania.
DiMauro's research focuses on genetic errors of energy metabolism and he defines disease entities using both biochemical and molecular approaches. As an "enzyme defect hunter," DiMauro has documented the molecular basis of many enzyme deficiencies, including carnitine palmitoyltransferase (CPT) deficiency, the first error of fatty acid oxidation to be recognized in humans. With colleagues at the University of Pennsylvania in the early 1970s, DiMauro studied the second patient ever with Luft's syndrome, the prototypical (though also the rarest) mitochondrial disease.
At Columbia University, he began to study respiratory chain enzymes in frozen muscle biopsies. In 1980 and 1983 he described two distinct forms of cytochrome oxidase (COX)-deficient myopathy, and in 1987 he helped define COX-deficient Leigh syndrome. Other contributions include the association of single mtDNA deletions with Kearns-Sayre syndrome (KSS) and progressive external ophthalmoplegia (PEO); the description of 28 novel pathogenic point mutations in mtDNA; the concept of mtDNA depletion; and the association of somatic mutations in mtDNA protein-coding genes with exercise intolerance.
Since the brain is so crucially dependent on oxidative metabolism, mitochondrial dysfunction almost always impairs brain function and often causes mental retardation. With support from the National Institute for Child Health and Human Development (NICHD), DiMauro studies the relationship between mitochondrial disorders and mental retardation.