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Human Disorders of Bioenergetics
Guest Speaker:
Vamsi Mootha, M.D.
Department of Systems Biology, Harvard Medical School Center for Human Genetics,
Massachusetts General Hospital
Recent studies have shown that both rare and common diseases can fundamentally stem from defects in cellular bioenergetics. There has also been significant progress made in charting the genetic basis of these disorders. This 45- minute webinar discusses the bioenergetic basis of various diseases and some of their associated clinical findings.
Also discussed:
- Mitochondrial and mendelian genetics
- Respiratory chain disorders
- Type 2 diabetes
View On-Demand Webinar*
References and Additional Links
Presentation References:
DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. New England Journal of Medicine 2003 June 26;348(26):2656-68.
Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proceedings of the National Academy of Sciences U.S.A. 2003;100(2):605-10.
Calvo S, Jain M, Xie X, Sheth SA, Chang B, Goldberger OA, Spinazzola A, Zeviani M, Carr SA, Mootha VK. Systematic identification of human mitochondrial disease genes through integrative genomics. Nature Genetics 2006;38(5):576-82.
Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D’Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nature Genetics 2006;38(5):570-5.
Mootha Laboratory Website:
http://mootha.med.harvard.edu/
Contact Information:
Vamsi Mootha, M.D.
Department of Systems Biology, Harvard Medical School Center for Human Genetics, Massachusetts General Hospital
Administrative Assistant:
Alice McKenney
Tel: 617-643-3059
Fax: 617-643-2335
Email: amckenney@chgr.mgh.harvard.edu
*None of the content on this website should be considered medical or psychological advice. Seahorse Biosciences does not give medical advice or diagnose medical and psychological conditions. Although every effort is made to assure that information on this site is accurate and current, knowledge in the field of cellular bioenergetics is growing rapidly and all data is subject to change without notice.
You should consult with your healthcare professional for specific advice relating to your medical questions or conditions. None of the information, statements and/or links contained on the website are intended to replace the attention or medical instructions from a healthcare professional. Only your practitioner can completely and appropriately assess your situation and make conclusive decisions regarding your care.
