scholarly journals In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family

2019 ◽  
Vol 60 (10) ◽  
pp. 1733-1740
Author(s):  
Michael Winther ◽  
Shoshi Shpitzen ◽  
Or Yaacov ◽  
Jakob Landau ◽  
Limor Oren ◽  
...  
Keyword(s):  
Common Snps ◽  
Rare Mutation ◽  
Genetic Explanation

Osteogenesis imperfecta type V due to a rare mutation c.119C> T in the IFITM5: A case report

2020 ◽  
Author(s):  
Tatiana Grebennikova ◽  
Alina Gavrilova ◽  
Anatoly Tiulpakov ◽  
Natalia Tarbaeva ◽  
Galina Melnichenko ◽  
...  
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Rare Mutation ◽  
Type V

scholarly journals A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene

2018 ◽  
Vol 57 (20) ◽  
pp. 3011-3014 ◽  
Author(s):  
Yuka Ebihara ◽  
Hitoshi Mochizuki ◽  
Nobuyuki Ishii ◽  
Ikuko Mizuta ◽  
Kazutaka Shiomi ◽  
...  
Keyword(s):  
Rare Mutation ◽  
Japanese Case ◽  
I Gene

Conditions for Positive and Negative Correlations Between Fitness and Heterozygosity in Equilibrium Populations

Genetics ◽  
1998 ◽  
Vol 148 (3) ◽  
pp. 1333-1340 ◽  
Author(s):  
Hong-Wen Deng ◽  
Yun-Xin Fu
Keyword(s):  
Single Population ◽  
Positive Correlation ◽  
Genetic Explanation ◽  
Genetic Causes ◽  
The Past ◽  
Fitness Traits ◽  
Genetic Systems ◽  
Positive Correlations ◽  
Non Equilibrium

AbstractThe past decades have witnessed extensive efforts to correlate fitness traits with genomic heterozygosity. While positive correlations are revealed in most of the organisms studied, results of no/negative correlations are not uncommon. There has been little effort to reveal the genetic causes of these negative correlations. The positive correlations are regarded either as evidence for functional overdominance in large, randomly mating populations at equilibrium, or the results of populations at disequilibrium under dominance. More often, the positive correlations are viewed as a phenomenon of heterosis, so that it cannot possibly occur under within-locus additive allelic effects. Here we give exact genetic conditions that give rise to positive and negative correlations in populations at Hardy-Weinberg and linkage equilibria, thus offering a genetic explanation for the observed negative correlations. Our results demonstrate that the above interpretations concerning the positive correlations are not complete or even necessary. Such a positive correlation can result under dominance and potentially under additivity, even in populations where associated overdominance due to linked alleles at different loci is not significant. Additionally, negative correlations and heterosis can co-occur in a single population. Although our emphasis is on equilibrium populations and for biallelic genetic systems, the basic conclusions are generalized to non-equilibrium populations and for multi-allelic situations.

Sickle cell disease associated with thalassemia; description of a rare mutation

2021 ◽  
Author(s):  
Sergio Felipe Pinzón Mariño ◽  
Paloma Ropero Gradilla ◽  
González Fernández Fernando Ataúlfo ◽  
Ana María Villegas Martínez ◽  
Silvia Méndez Martínez ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cell Disease ◽  
Rare Mutation

scholarly journals SSADH Variants Increase Susceptibility of U87 Cells to Mitochondrial Pro-Oxidant Insult

2020 ◽  
Vol 21 (12) ◽  
pp. 4374
Author(s):  
Giovanna Menduti ◽  
Alessandra Vitaliti ◽  
Concetta Rosa Capo ◽  
Daniele Lettieri-Barbato ◽  
Katia Aquilano ◽  
...  
Keyword(s):  
Lipid Peroxidation ◽  
Mitochondrial Function ◽  
Antioxidant Defense ◽  
Mitochondrial Morphology ◽  
Common Snps ◽  
Protein Markers ◽  
Triple Mutant ◽  
Transfected Cells ◽  
Semialdehyde Dehydrogenase ◽  
Succinate Semialdehyde

Succinate semialdehyde dehydrogenase (SSADH) is a mitochondrial enzyme, encoded by ALDH5A1, mainly involved in γ-aminobutyric acid (GABA) catabolism and energy supply of neuronal cells, possibly contributing to antioxidant defense. This study aimed to further investigate the antioxidant role of SSADH, and to verify if common SNPs of ALDH5A1 may affect SSADH activity, stability, and mitochondrial function. In this study, we used U87 glioblastoma cells as they represent a glial cell line. These cells were transiently transfected with a cDNA construct simultaneously harboring three SNPs encoding for a triple mutant (TM) SSADH protein (p.G36R/p.H180Y/p.P182L) or with wild type (WT) cDNA. SSADH activity and protein level were measured. Cell viability, lipid peroxidation, mitochondrial morphology, membrane potential (ΔΨ), and protein markers of mitochondrial stress were evaluated upon Paraquat treatment, in TM and WT transfected cells. TM transfected cells show lower SSADH protein content and activity, fragmented mitochondria, higher levels of peroxidized lipids, and altered ΔΨ than WT transfected cells. Upon Paraquat treatment, TM cells show higher cell death, lipid peroxidation, 4-HNE protein adducts, and lower ΔΨ, than WT transfected cells. These results reinforce the hypothesis that SSADH contributes to cellular antioxidant defense; furthermore, common SNPs may produce unstable, less active SSADH, which could per se negatively affect mitochondrial function and, under oxidative stress conditions, fail to protect mitochondria.

scholarly journals Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.

1997 ◽  
Vol 34 (5) ◽  
pp. 391-394 ◽  
Author(s):  
S Iyengar ◽  
H Kalinsky ◽  
S Weiss ◽  
M Korostishevsky ◽  
M Sadeh ◽  
...  
Keyword(s):  
Rare Mutation ◽  
Mcardle Disease

scholarly journals Erratum: Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs

2012 ◽  
Vol 44 (7) ◽  
pp. 831-831 ◽  
Author(s):  
S Hong Lee ◽  
◽  
Teresa R DeCandia ◽  
Stephan Ripke ◽  
Jian Yang ◽  
...  
Keyword(s):  
Common Snps
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