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Complex 1 Polymorphisms
and Mutations
| Principal Investigator: | Bernadette Kalman, MD, PhD | |
| Time frame of study: | Ongoing | |
| Number of participants needed: | Open | |
| Location of Study: | Department
of Neurology MS Research Center St. Luke’s-Roosevelt Hospital Center New York, NY 10019 |
|
| Contact Name, Number & Email: | Bernadette
Kalman, MD, PhD (212) 523-8676 |
1) Complex
I variants in Multiple Sclerosis:
Supported by the National Multiple Sclerosis Society and the Wadsworth
Foundation, Bernadette Kalman, M.D., Ph.D. (Department of Neurology, MS
Research Center, SLRHC, New York, NY 10019) and Thomas Leist, M.D. Ph.D.
(Department of Neurology, Division of Neuroimmunology, Thomas Jefferson
University, Philadelphia, PA 19107) are studying variants of Complex I
in families with Multiple Sclerosis (MS). The ultimate goal of these studies
is to better define the role of Complex I variants in the neurodegenerative
process associated with inflammation in MS.
Collaborators involved in these studies:
Professor George C. Ebers
Department of Neurology, Oxford University, Oxford, UK
Dr. Gary Birnbaum
Minneapolis Clinic of Neurology, Golden Valley, MN, USA
Dr. Raul N. Mandler
Department of Neurology, George Washington University, Washington DC,
USA
2) Search for
mutations with pathogenic significance in genes of Complex I:
Complex I is composed of at least 43 subunits, 36 subunits being encoded
by nuclear, and 7 subunits being encoded by mitochondrial genes. Currently,
we have the means of screening mutations with pathogenic significance
within the NDUFV1 and NDUFS1 subunits, and are gradually expanding our
set up for scanning additional nuclear DNA encoded subunits of Complex
I in patients with metabolic encephalopathy and Complex I deficiency,
after the known mitochondrial encoded mutations associated with Leigh’s
like syndromes are excluded. Our Complex I study group include Bernadette
Kalman, M.D., Ph.D. (Department of Neurology, MS Research Center, SLRHC,
New York, NY, T: 212-523-8676), Mary Selak, Ph.D. (Department of Neonatology,
University of Pennsylvania, Philadelphiaa, PA) and Thomas Leist, M.D.,
Ph.D., Department of Neurology, Thomas Jefferson University, Philadelphia,
PA). These studies are currently performed in research setting. Investigators
interested in collaboration may contact Dr. B. Kalman at 212-523-8676.