Genetic Testing

Publication Title: 
The Cochrane Database of Systematic Reviews

BACKGROUND: There are high expectations regarding the potential for the communication of DNA-based disease risk estimates to motivate behaviour change. OBJECTIVES: To assess the effects of communicating DNA-based disease risk estimates on risk-reducing behaviours and motivation to undertake such behaviours.

Author(s): 
Marteau, Theresa M.
French, David P.
Griffin, Simon J.
Prevost, A. T.
Sutton, Stephen
Watkinson, Clare
Attwood, Sophie
Hollands, Gareth J.
Publication Title: 
Gerontology

BACKGROUND: We review studies showing that CR acts rapidly, even in late adulthood, to extend health- and lifespan in mice. These rapid physiological effects are closely linked to patterns of gene expression in liver and heart. Non-human primate and human studies suggest that the signal transduction pathways responsible for the lifespan and health effects of caloric restriction (CR) may also be involved in human longevity. Thus, pharmaceuticals capable of mimicking the effects of CR (and other methods of lifespan extension) may have application to human health.

Author(s): 
Spindler, Stephen R.
Mote, Patricia L.
Publication Title: 
Neuroscience Letters

A cholesteryl ester transfer protein (CETP) genotype (V/V homozygosity for I405V, NCBI dbSNP rs5882) has been associated with preservation of cognitive function in old age, in addition to its associations with exceptional longevity and cardiovascular disease. We tested the hypotheses that this polymorphism was associated with either level of cognitive function or lifetime cognitive change in 525 participants who took part in the Scottish Mental Survey of 1932. Participants took the same well-validated mental ability test at ages 11 and 79.

Author(s): 
Johnson, Wendy
Harris, Sarah E.
Collins, Patrick
Starr, John M.
Whalley, Lawrence J.
Deary, Ian J.
Publication Title: 
Age (Dordrecht, Netherlands)

The pathways that regulate energy homeostasis, the mechanisms of damage repair, and the signaling response to internal environmental changes or external signals have been shown to be critical in modulating lifespan of model organisms and humans. In order to investigate whether genetic variation of genes involved in these pathways contribute to longevity, a two-stage case-control study in two independent sets of long-lived individuals from Calabria (Italy) was performed. In stage 1, 317 SNPs in 104 genes were analyzed in 78 cases (median age 98 years) and 71 controls (median age 67 years).

Author(s): 
Di Cianni, Fausta
Campa, Daniele
Tallaro, Federica
Rizzato, Cosmeri
de Rango, Francesco
Barale, Roberto
Passarino, Giuseppe
Canzian, Federico
Gemignani, Federica
Montesanto, Alberto
Landi, Stefano
Rose, Giuseppina
Publication Title: 
American Journal of Human Genetics

We previously identified a functional variant of KLOTHO (termed "KL-VS"), which harbors two amino acid substitutions in complete linkage disequilibrium and is associated with reduced human longevity when in homozygosity. Klotho-deficient mice display extensive arteriosclerosis when fed a normal diet, suggesting a potent genetic predisposition.

Author(s): 
Arking, Dan E.
Becker, Diane M.
Yanek, Lisa R.
Fallin, Daniele
Judge, Daniel P.
Moy, Taryn F.
Becker, Lewis C.
Dietz, Harry C.
Publication Title: 
Gerontology

BACKGROUND: We review studies showing that CR acts rapidly, even in late adulthood, to extend health- and lifespan in mice. These rapid physiological effects are closely linked to patterns of gene expression in liver and heart. Non-human primate and human studies suggest that the signal transduction pathways responsible for the lifespan and health effects of caloric restriction (CR) may also be involved in human longevity. Thus, pharmaceuticals capable of mimicking the effects of CR (and other methods of lifespan extension) may have application to human health.

Author(s): 
Spindler, Stephen R.
Mote, Patricia L.
Publication Title: 
Journal of Neural Transmission (Vienna, Austria: 1996)

NMDA receptors and especially the NR2B receptor subtype play a crucial role during chronic ethanol consumption and alcohol withdrawal. Therefore, the NR2B receptor subtype expression in peripheral blood cells of 32 male patients suffering from alcohol dependency were assessed through quantitative RT-PCR and to explore regulating epigenetic mechanisms, a methylation analysis was conducted using bisulfite sequencing of a fragment of the NR2B promoter region.

Author(s): 
Biermann, Teresa
Reulbach, Udo
Lenz, Bernd
Frieling, Helge
Muschler, Marc
Hillemacher, Thomas
Kornhuber, Johannes
Bleich, Stefan
Publication Title: 
Clinical Genetics

Amyotrophic lateral sclerosis (ALS) is a rare and devastating neurodegenerative disorder. The majority of cases are sporadic ALS (SALS), with 5-10% being familial ALS (FALS), and are inherited mostly as autosomal dominant. Mutations in Cu/Zn superoxide dismutase (SOD1) and the TAR DNA-binding protein (TARDBP) gene are the most commonly known cause of ALS. We analyzed these genes in 61 Italian ALS patients using high-resolution melting analysis to confirm the role of SOD1 and TARDBP in the physiopathology of ALS.

Author(s): 
Piaceri, I.
Del Mastio, M.
Tedde, A.
Bagnoli, S.
Latorraca, S.
Massaro, F.
Paganini, M.
Corrado, A.
Sorbi, S.
Nacmias, B.
Publication Title: 
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics

Several studies have evaluated the potential utility of blood-based whole-transcriptome signatures as a source of biomarkers for schizophrenia. This endeavor has been complicated by the fact that individuals with schizophrenia typically differ from appropriate comparison subjects on more than just the presence of the disorder; for example, individuals with schizophrenia typically receive antipsychotic medications, and have been dealing with the sequelae of this chronic illness for years.

Author(s): 
Glatt, Stephen J.
Stone, William S.
Nossova, Nadine
Liew, Choong-Chin
Seidman, Larry J.
Tsuang, Ming T.
Publication Title: 
International Review of Psychiatry (Abingdon, England)

Major depressive disorder (MDD) is one of the most prevalent and disabling psychiatric disorders worldwide and therefore an important public health priority. The selection process of antidepressant treatment is primarily guided by trial and error, and the outcomes with current antidepressant strategies are disappointing. The biological background of the disease is heterogeneous with presumably multiple biological systems involved.

Author(s): 
Frieling, Helge
Tadi?, AndrÈ

Pages

Subscribe to RSS - Genetic Testing