The Molecular Biology Core provides core cell biological, biochemical and molecular genetic services to the Alzheimer Disease (AD) Center and helps foster research of Emory University and outside investigators. The cell biological services provided include collecting and cataloging blood samples from well characterized patients and controls provided by the Clinical core and preparing lymphoblastoid cell lines and DNAs from these samples. They also include collecting muscle biopsies from selected patients and controls, preparing myoblast cell lines, isolating muscle mitochondria, and purifying muscle DNA. Biochemical analyses include physiological screening and mitochondrial oxidative phosphorylation (OXPHOS) enzyme analysis of ADC patients and controls. The molecular genetic analyses encompass most of the known AD genetic determinants. Patients with early onset familial AD are screened for mutations in the amyloid precursor protein (APP) gene, and tests are being developed for the recently discovered S182 and STM2 genes. For patients with late onset AD, the Molecular Biology core performs apolipoprotein E genotyping, and analysis of the a/1-antichymotrypsin alleles A and T, and the complete set of mitochondrial DNA (mtDNA) markers including the tRNA/Gln np4336G mutation. The Core also tests for markers of AD progression including somatic mtDNA rearrangement and base substitution mutations. All patient records, materials catalogued, and test results are maintained in an integrated but secure database.

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Center Core Grants (P30)
Project #
2P30AG010130-06
Application #
5204745
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
6
Fiscal Year
1996
Total Cost
Indirect Cost
Goldstein, Felicia C; Levey, Allan I; Steenland, N Kyle (2013) High blood pressure and cognitive decline in mild cognitive impairment. J Am Geriatr Soc 61:67-73
Procaccio, Vincent; Salazar, Gloria; Ono, Shoichiro et al. (2006) A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am J Hum Genet 78:947-60
Goldstein, F C; Ashley, A V; Freedman, L J et al. (2005) Hypertension and cognitive performance in African Americans with Alzheimer disease. Neurology 64:899-901
Choi, Joungil; Levey, Allan I; Weintraub, Susan T et al. (2004) Oxidative modifications and down-regulation of ubiquitin carboxyl-terminal hydrolase L1 associated with idiopathic Parkinson's and Alzheimer's diseases. J Biol Chem 279:13256-64
Weiner, David M; Goodman, Matilda W; Colpitts, Tonya M et al. (2004) Functional screening of drug target genes: m1 muscarinic acetylcholine receptor phenotypes in degenerative dementias. Am J Pharmacogenomics 4:119-28
Cairns, Nigel J; Zhukareva, Victoria; Uryu, Kunihiro et al. (2004) alpha-internexin is present in the pathological inclusions of neuronal intermediate filament inclusion disease. Am J Pathol 164:2153-61
Scherzer, Clemens R; Offe, Katrin; Gearing, Marla et al. (2004) Loss of apolipoprotein E receptor LR11 in Alzheimer disease. Arch Neurol 61:1200-5
Cairns, Nigel J; Uryu, Kunihiro; Bigio, Eileen H et al. (2004) alpha-Internexin aggregates are abundant in neuronal intermediate filament inclusion disease (NIFID) but rare in other neurodegenerative diseases. Acta Neuropathol (Berl) 108:213-23
Cairns, N J; Grossman, M; Arnold, S E et al. (2004) Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease. Neurology 63:1376-84
Green, J; McDonald, W M; Vitek, J L et al. (2002) Neuropsychological and psychiatric sequelae of pallidotomy for PD: clinical trial findings. Neurology 58:858-65

Showing the most recent 10 out of 85 publications