Harry (Hal) Dietz, M.D.
Victor A. McKusick Professor of Institute of Genetic Medicine and Professor of Pediatrics
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Investigator of Howard Hughes Medical Institute
Room 539, Broadway Research Building
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Our laboratory is interested in the development and homeostasis of the arterial wall. One goal is to understand genetic factors that predispose to aortic aneurysm, a condition accounting for 1-2 percent of deaths in industrialized countries. Our initial approach has been to study Marfan syndrome (MFS), a genetic disease that includes aortic aneurysm as part of the condition and that is caused by mutations in a single gene. It is anticipated that a comprehensive understanding of the cause, progression, and modulation of MFS will promote a greater understanding of vascular wall biology. Other vascular disorders currently being studied include: familial tetralogy of Fallot, cerebral cavernous malformation, a novel dominant syndrome of premature aging that prominently includes the cardiovascular system, the association of bicuspid aortic valve with aneurysm, and a novel and aggressive aneurysm phenotype called Loeys-Dietz syndrome. During our study of MFS, we recognized that a particular type of mutation is associated with very low levels of mutant RNA and tends to cause very mild forms of the disease. A second major interest of our laboratory is to understand the mechanism of nonsense-mediated mRNA decay; to evaluate its basic biologic purpose; and to assess its role as a potent modulator of disease severity in a wide variety of genetic disorders.
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- Noensie F and Dietz HC. A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition. Nature Biotechnology 19:434-439, 2001.
- Arking DE, Krebsova A, Macek M Sr, Macek M Jr, Arking A, Mian IS, Fried L, Hamosh A, Dey S, McIntosh I, Dietz HC. Association of human aging with functional variant of klotho. PNAS 99:856-861, 2002.
- Frischmeyer PA, van Hoof A, O’Donnell K, Guerrerio AL, Parker R, Dietz HC. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 295(5563):2258-61, 2002.
- Mendell JT, ap Rhys CMJ, Dietz HC. Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. Science 298:419-422, 2002.
- Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai LY, Dietz HC. Dysregulation of TGF-ß activation contributes to pathogenesis of Marfan syndrome. Nature Genet 33(3):407-411, 2003.
- Arking DE, Becker DM, Yanek LR, Fallin D, Judge DP, Moy TF, Becker LC, Dietz HC. KLOTHO Allele Status and the Risk for Early-Onset Occult Coronary Artery Disease. Am J Hum Genet 72:1154-1161, 2003.
- Judge DP, Biery NJ, Keene DR, Geubtner J, Myers L, Huso DL, Sakai LY, Dietz HC. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest 114:172-81, 2004.
- Mendell JT, Sharifi NA, Meyer JL, Martinez-Murillo F, Dietz HC. Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nature Genet Oct;36(10:1073-8. Epub 2004 Sep 26. Erratum: Nov;36(11):1238 2004.
- Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D, Gabrielson KL, Hausladen JMW, Mecham RP, Judge DP, Dietz HC. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 114(11):1586-1592, 2004.
- Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu L, Myers LA, De Backer J, Hellermans J, Chen Y, Davis EC, Webb CL, Kress W, Spevak PJ, Cameron DE, Coucke P, Rifkin DB, De Paepe, Dietz HC. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGF beta R1 or TGF beta R2. Nature Genet (released online 1/30/05).