Education

B.S., Biology, Texas A & M University-Commerce, Commerce, TX, 1999
Ph.D., Biomedical Sciences, Meharry Medical College, Nashville, TN, 2006
3rd year FIRST Postdoctoral Fellow, 2006 - present

Research Statement

Fragile X syndrome (FAX) is one of the most common forms of inherited mental retardation. This disease affects approximately 1 out of 4000 males and approximately 1 out of 8000 females in the general population [1, 2]. Fragile X syndrome is caused by expansion of the CGG repeats in exon 1 of the Fragile X Mental Retardation -1 (FMR-1) gene [3, 4]. This trinucleotide expansion causes methylation of FMR-1 which induces transcriptional silencing [5]. The premutation allele contains approximately 60 to 199 repeats, is unstable, and originally not considered detrimental; that is, there did not appear to be a phenotype consequence of the long repeat tract. However, in the late 1980s and early 1990s, preliminary findings suggested that nonimpaired heterozygotes were at risk of early menopause and increased rates of twinning, both indications of ovarian failure. Once premutation carriers could be distinguished from full mutation carriers, this phenotype was found to be restricted to premutation carriers only. When the repeat size exceeds 79 repeats the risk for ovarian dysfunction is clinically significant, however this risk appears to plateau and slightly decrease among women with very high repeats [6]. Based on the recent studies approximately 21% of premutation carriers have premature ovarian failure (POF) compared to only 1% in the general population. POF is define as menopause before the age of 40, thus POF can severely shorten reproductive years. Due to the serious consequences of POF, women who experience ovarian dysfunction for their age without medical explanation are being tested in increasing numbers for Fragile X permutation [7].

To better elucidate the underlying molecular mechanisms of POF my research project involves (1) determining the expression level of Fragile X Mental Retardation Protein (FMRP) in several premutation individuals; and (2) examining the ovaries of premutation carriers to determine if the premutation alleles effects ovary morphology and structure.

Publications

Singha, UK., Peprah, E., Williams, S., Walker, R., Saha, L., Chaudhuri, M., (2008) Characterization of the mitochondrial inner membrane protein translocator Tim17 form Trypanosoma brucei. Molecular & Biochemical Parasitology, 159 (1) 30-43.

Peprah, E., Saha, L., and Chaudhuri, M. (2006) Trypanosoma brucei Tim17 is essential for cell survival and mitochondrial biogenesis.  11th International Congress of Parasitology, pp. 53-57.

Emory University School of Medicine
Department of Human Genetics
Whitehead Biomedical Research Bldg., Suite 335
615 Michael Street
Atlanta, GA 30322
Tel: 404.727.9396
Email: epeprah@genetics.emory.edu
http://www.proscien.com/researcher.html