Thomas V. McDonald, M.D.
Professor, Departments of Medicine (Cardiology) and
Molecular Pharmacology
Dr. McDonald and colleagues are examining the role of protein mutations in several forms of sudden death. A notable example is long QT syndrome, a hereditary disorder of the heart’s electrical rhythm that can occur in otherwise healthy people and is potentially fatal. So far, researchers have identified at least 12 genes that may harbor mutations that lead to long QT syndrome. Dr. McDonald serves as co-director of the Montefiore-Einstein Cardiogenetics Program, which provides one-stop help for families affected by sudden unexpected death syndrome, sudden infant death syndrome and other cardiac rhythm disturbances. full bio>>
Key Publications
- Chen J, Chen K, Sroubek J, Wu Z-Y, Bian J-S, McDonald TV. Post-transcriptional control of HERG potassium channel protein by α-adrenergic receptor stimulation. Molecular Pharmacology Aug;78(2):186-97. 2010.
- Sroubek J & McDonald TV. Protein Kinase A Activity at the Endoplasmic Reticulum Surface Is Responsible for Augmentation of Human ether-a-go-go-related Gene Product (HERG). J Biol Chem. 286:21927-21936. 2011.
- Krishnan Y, Li Y, Zheng R, Kanda V, McDonald TV. Mechanisms underlying the protein-kinase mediated regulation of the HERG potassium channel synthesis. Biochimica et Biophysica Acta - Molecular Cell Research 1823:1273-1284. 2012.
- Erskine K, Griffith E, DeGroat N, Stolerman M, Silverstein LB, Hidayatalla N, Wasserman D, Paljevic E, Cohen L, Walsh CA, McDonald T, Marion RW, Dolan SM. An Interdisciplinary Approach to Personalized Medicine: Case Studies from a Cardiogenetics Clinic. Personalized Medicine 10:73-80. 2013.
- Sroubek J, Krishnan Y, McDonald TV. Sequence and structure-specific elements of HERG mRNA regulate channel synthesis and trafficking. FASEB J (Epub) 2013 April 22.
Funding
- NIH/NHLBI
1R01HL118437-01
(4/2014 – 3/2018)
Functional implications of non-coding data in HERG mRNA: implications for LQTS
P.I.: McDonald
- NIH/NHLBI
1R21HL120782-01
(7/2014 – 6/2016(R21) – 6/2019(R33))
Large-scale functional phenotyping of ion channel arrhythmia genomic variants
P.I.: McDonald
- Human Genetics Pilot Project: Exome/Genome analysis of cardiac sudden death. (Albert Einstein College of Medicine, Department of Genetics)