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Steven Mumm, PhD Research Assistant Professor of Medicine
Dr. Mumm received his PhD in Cellular and Molecular Biology from Saint Louis University, St. Louis, MO. He was trained in the Markey Pathway in Human Pathobiology and had additional post-doctoral training in the Human Genome Project at Washington University School of Medicine. Working closely with Dr. Michael P. Whyte, Dr. Mumm continues the investigation of the molecular genetics and pathobiology of multiple familial bone disorders. Research Interests His current research is joined with that of Dr. Michael P. Whyte and focuses on the molecular genetics of human bone and mineral diseases, including juvenile Paget disease, metachondromatosis, hypophosphatasia, spondyloepiphyseal dysplasia tarda, and others. They study a variety of heritable bone diseases, identifying the genes and precise genetic mutations that cause these disorders, which helps to elucidate the pathobiology. They continue to investigate hypophosphatasia which is most commonly an autosomal recessive bone disease but can also be inherited as autosomal dominant caused by mutations in the tissue non-specific alkaline phosphatase gene teeth. Another new focus of their research is spondyloepiphyseal dysplasia tarda (SEDT), a rare X-linked recessive disorder that features acquired deformation of vertebrae and long bones, leading to short stature and degenerative joint disease in affected males caused by mutations in the SEDL gene. They are studying families with SEDT, identifying inactivating mutations in the SEDL gene focusing on the in vitro expression studies of normal and mutated sedlin protein to elucidate the normal function of sedlin in chondrocyte differentiation, and the pathobiology in SEDT. They have also initiated studies to identify unique mutations associated with high bone mass disease and osteoporosis-pseudoglioma syndrome. Mumm Lab 
Selected Publications Mumm S, Christie, PT Finnegan P, Jones J, Dixo, PH, Pannet AJ, Harding B, Gottesman GS, Thakker RV, and Whyte MP A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred. J Clin Endo & Metab 2000; 85:3343-3347. Mumm S, Zhang X, Vacca M, D'Esposito M, and Whyte MP The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. Gene 2001; 273: 285-293. Mumm S, Zhang X, Gottesman GS, McAlister WH and Whyte MP Pre-onset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin. J Bone and Min Res 2001; 16: 2245-2250. Mumm S, Jones J, Finnegan P, Henthorn PS, Podgornik M and Whyte, MP. Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia Mol Gen and Metab 2002;75: 143-153. Whyte, MP, Obrecht, SE, Finnegan, MP, Jones, JL, Podgornik, MN, McAlister, WH, Mumm, S. Osteoprotegerin deficiency and juvenile Paget's disease. The New England Journal of Medicine 2002; 347: 175-184. Whyte, MP, Wenkert, D, Clements, KL, McAlister, WH, Mumm, S. Bisphosphonate-induced osteopetrosis. The New England Journal of Medicine 2003; 349: 457-463. Watts, GDJ, Wymer J, Mehta, SG, Mumm, S, Darvish, D, Pestronk, A, Whyte, MP, Kimonis, VE. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nature Genetics 2004; 36: 377-381. Whyte, MP, Reinus, WH, Mumm, S. High bone mass disease and LRP5. The New England Journal of Medicine 2004; 350: 2096-2097. Wyckoff MH, El-Turk C, Laptook A, Timmons C, Gannon FH, Zhang X, Mumm S, Whyte MP. Neonatal Lethal Osteochondrodysplasia with Low Serum Levels of Alkaline Phosphatase and Osteocalcin. Journal of Clinical Endocrinology & Metabolism 2005; 90: 1233-1240. Rickels, MR, Zhang, X, Mumm, S, Whyte, MP Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation. Journal of Bone and Mineral Research 2005; 20: 878-885.
Division of Bone & Mineral Diseases
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