Taub Institute: Genomics Core


Columbia University
Irving Medical Center
Neurological Institute

710 West 168th Street, 3rd floor
(212) 305-1818

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About Us

Taub Faculty

Eric A. Schon, PhD

Eric A. Schon, PhD

Lewis P. Rowland Professor of Neurology (in Genetics and Development)

Email: eas3@cumc.columbia.edu

Eric Schon is the Lewis P. Rowland Professor of Neurology, and holds a joint appointment as a Professor in the Department of Genetics and Development. After receiving a B.S. in Chemical Engineering from Columbia University, he worked for 10 years for the Procter & Gamble Company in Cincinnati, OH as a Technical Brand Manager. He left industry in 1979 and received his PhD in Biological Chemistry from the University of Cincinnati. He did his postdoctoral work at Harvard University and at Columbia University.

Mitochondria are unique among the constituents of the eukaryotic cell in that they are semi-autonomous organelles that contain their own genetic machinery. As such, they operate under the dual genetic controls of nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Mitochondrial genetics differs markedly from mendelian genetics, because first, mitochondria are inherited exclusively from the mother, and second, there are hundreds or thousands of mitochondria (and mtDNAs) per cell. In addition, organellar division and mtDNA replication are stochastic processes unrelated to the cell cycle; and mtDNA gene organization, DNA replication, RNA transcription, and protein translation all have a prokaryotic "look" about them. This latter feature is no surprise, given that mitochondria were once bacteria that were taken up by the proto-eukaryotic cell early in evolution. Biochemically, the most relevant aspect of mitochondrial function is the production of oxidative energy via the respiratory chain and oxidative phosphorylation.

There are maternally-inherited, mendelian-inherited, sporadic, and even environmentally-induced mitochondrial disorders, most of which are fatal. We are studying the molecular basis of a number of these diseases, often using cytoplasmic hybrids, or "cybrids," that contain known proportions of mutant or wild-type mtDNAs in clonal cell lines that have no contaminating mtDNA background. We have also begun a project on treating mtDNA-based disease using pharmacoligical approaches aimed at "shifting heteroplasmy" in order to restore respiratory function in patient-derived cells.

Most recently we have become interested in the pathogenesis of Alzheimer disease, and have discovered that presenilin-1, presenilin-2, and gamma-secretase activity itself, are located predominantly in a specialized subcompartment of the ER that is physically and biochemically connected to mitochondria, called mitochondria-associated ER membranes (MAM). We have found that cells from AD patients have massively increased ER-mitochondrial communication, which may help explain many of the seemingly unrelated features of the disease. We believe that this hyperconnectivity plays a fundamental role in the pathogenesis of AD, with implications for both diagnosis and treatment of this devastating disorder.

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