scholarly journals Evaluation of APOE ɛ2/ɛ3/ɛ4 Alleles in a Cohort of Individuals Affected by Developmental Topographical Disorientation

2021 ◽  
pp. 1-6
Author(s):  
Sarah F. Barclay ◽  
Kendra Potocki ◽  
Ford Burles ◽  
N. Torben Bech-Hansen ◽  
Giuseppe Iaria
Keyword(s):  
Spatial Orientation ◽  
Genetic Background ◽  
Allele Frequencies ◽  
Apoe Gene ◽  
Apoe Allele ◽  
Topographical Disorientation

The three common alleles of the APOE gene, ɛ2/ɛ3/ɛ4, have been linked to human spatial orientation. We investigated the genetic role of APOE in developmental topographical disorientation (DTD), a lifelong condition that results in topographical disorientation. We genotyped the APOE ɛ2/ɛ3/ɛ4 alleles in a cohort of 20 unrelated DTD probands, and found allele frequencies not statistically different from the those seen in the population as a whole. Therefore, we found no evidence that DTD occurs preferentially on a genetic background containing any particular APOE allele, making it unlikely that these APOE alleles are contributing to the development of DTD.

Genetic background of cholesterol absorption efficacy. The role of Niemann–Pick C1-like 1 receptor and its genetic variation in lipid metabolism

2010 ◽  
Vol 151 (34) ◽  
pp. 1376-1383 ◽  
Author(s):  
Mariann Harangi ◽  
István Balogh ◽  
János Harangi ◽  
György Paragh
Keyword(s):  
Genetic Variation ◽  
Lipid Metabolism ◽  
Genetic Background ◽  
Cholesterol Absorption ◽  
Niemann Pick

A Niemann–Pick C1-like-1 egy szterolfelismerő domént tartalmazó membránfehérje, amelyet nagy számban expresszálnak csúcsi felszínükön a bélhámsejtek. Az utóbbi évek vizsgálatai azt igazolták, hogy ez a fehérje szükséges a szabad koleszterin bejutásához a bélhámsejtekbe a bél lumenéből. Biokémiai vizsgálatok azt igazolták, hogy a Niemann–Pick C1-like-1-hez kötődik az ezetimib, amely egy hatékony koleszterinfelszívódást gátló szer. A bélből történő koleszterinfelszívódás ütemében és az ezetimibkezelés hatékonyságában tapasztalt egyéni eltérések hátterében felmerült néhány Niemann–Pick C1-like-1 génvariáció oki szerepe.

scholarly journals Differential Responses of Two Broccoli (Brassica oleraceaL. var Italica) Cultivars to Salinity and Nutritional Quality Improvement

2012 ◽  
Vol 2012 ◽  
pp. 1-12 ◽  
Author(s):  
Chokri Zaghdoud ◽  
Carlos Alcaraz-López ◽  
César Mota-Cadenas ◽  
María del Carmen Martínez-Ballesta ◽  
Diego A. Moreno ◽  
...  
Keyword(s):  
Nutritional Quality ◽  
Genetic Background ◽  
Nutritional Value ◽  
Soluble Sugars ◽  
Root Hydraulic Conductance ◽  
Nutritional Properties ◽  
Specific Strategy ◽  
Nutritional Characteristics ◽  
Salinity Levels

The comparative responses of two broccoli cultivars (Brassica oleraceavar. Italica, cv. Parthenon and cv. Naxos) to a 15 d exposure to different NaCl levels were investigated. Salinity led to increased concentrations of Na+and Cl−ions in both cultivars, a disruption of the endogenous minerals levels in the shoots and roots—that varied with the cultivar and salt concentration—and decreases in the osmotic potential (Ψπ), root hydraulic conductance (L0), and stomatal conductance (Gs). The reduced biomass of Naxos at moderate NaCl indicates greater sensitivity to salinity, compared with Parthenon. Parthenon accumulated more soluble sugars, for osmotic adjustment, whereas Naxos accumulated proline, which gave the two cultivars differing nutritional characteristics. The total glucosinolates (GSLs) content was not affected by salinity in Parthenon while it decreased significantly in Naxos as a consequence of the decrease in the indole GSL. However, Naxos accumulated more aliphatic GSLs under salt stress than Parthenon, which confers on this cultivar a greater nutritional value when cultivated under salinity.These results suggest that, at distinct salinity levels, each broccoli cultivar adopts a specific strategy, indicating the crucial role of the genetic background on the organoleptic and nutritional properties that each cultivar acquires.

scholarly journals Role of an Atypical Cadherin Gene, Cdh23 in Prepulse Inhibition, and Implication of CDH23 in Schizophrenia

2021 ◽  
Author(s):  
Shabeesh Balan ◽  
Tetsuo Ohnishi ◽  
Akiko Watanabe ◽  
Hisako Ohba ◽  
Yoshimi Iwayama ◽  
...  
Keyword(s):  
Prepulse Inhibition ◽  
Genetic Background ◽  
Posterior Probability ◽  
Human Study ◽  
Inbred Strains ◽  
Chromosome 10 ◽  
Significant Enrichment ◽  
The Brain ◽  
Schizophrenia Susceptibility

Abstract We previously identified quantitative trait loci (QTL) for prepulse inhibition (PPI), an endophenotype of schizophrenia, on mouse chromosome 10 and reported Fabp7 as a candidate gene from an analysis of F2 mice from inbred strains with high (C57BL/6N; B6) and low (C3H/HeN; C3H) PPI levels. Here, we reanalyzed the previously reported QTLs with increased marker density. The highest logarithm of odds score (26.66) peaked at a synonymous coding and splice-site variant, c.753G>A (rs257098870), in the Cdh23 gene on chromosome 10; the c.753G (C3H) allele showed a PPI-lowering effect. Bayesian multiple QTL mapping also supported the same variant with a posterior probability of 1. Thus, we engineered the c.753G (C3H) allele into the B6 genetic background, which led to dampened PPI. We also revealed an e-QTL (expression QTL) effect imparted by the c.753G>A variant for the Cdh23 expression in the brain. In a human study, a homologous variant (c.753G>A; rs769896655) in CDH23 showed a nominally significant enrichment in individuals with schizophrenia. We also identified multiple potentially deleterious CDH23 variants in individuals with schizophrenia. Collectively, the present study reveals a PPI-regulating Cdh23 variant and a possible contribution of CDH23 to schizophrenia susceptibility.

scholarly journals Absence of the E2 allele of apolipoprotein in Amerindians

1997 ◽  
Vol 20 (4) ◽  
pp. 741-743 ◽  
Author(s):  
Guilherme B. Marin ◽  
Marli H. Tavella ◽  
João F. Guerreiro ◽  
Sidney E.B. Santos ◽  
Marco A. Zago
Keyword(s):  
Allele Frequencies ◽  
South American ◽  
Allele Distribution ◽  
Apoe Allele ◽  
Apoe4 Allele ◽  
Amerindian Tribes

Determination of the ApoE allele distribution in five South American Amerindian tribes revealed absence of the ApoE2 allele, accompanied by high ApoE3 and low ApoE4 allele frequencies for most tribes, a distribution only previously reported for the Inuit Eskimo from Greenland.

Role of APOE Gene in Bone Mineral Density and Incidence of Bone Fractures in Brazilian Postmenopausal Women

2018 ◽  
Vol 21 (2) ◽  
pp. 227-235 ◽  
Author(s):  
Leticia S. Souza ◽  
Neuza Felix Rochette ◽  
Diego França Pedrosa ◽  
Rafaella P. Lopes Magnago ◽  
Teodiano B. Freire Filho ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Postmenopausal Women ◽  
Bone Mineral ◽  
Bone Fractures ◽  
Apoe Gene ◽  
Mineral Density

Role of strain differences on host resistance and the transcriptional response of macrophages to infection withYersinia enterocolitica

2006 ◽  
Vol 25 (1) ◽  
pp. 75-84 ◽  
Author(s):  
Katrin van Erp ◽  
Kristina Dach ◽  
Isabel Koch ◽  
Jürgen Heesemann ◽  
Reinhard Hoffmann
Keyword(s):  
Transcription Factors ◽  
Host Resistance ◽  
Genetic Background ◽  
Antibacterial Properties ◽  
Differentially Expressed ◽  
Transcriptional Responses ◽  
Yersinia Infection ◽  
Ifn Γ ◽  
The Impact

The outcome of a host-pathogen encounter is determined by virulence factors of the pathogen and defense factors of the host. We characterized the impact of host factors [resistant (C57BL/6) or susceptible (BALB/c) genetic background and exposure to interferon (IFN)-γ] on transcriptional responses of bone marrow-derived macrophages (BMDM) to infection with Yersinia enterocolitica. IFN-γ treatment more profoundly altered the transcriptome of BMDM than did bacterial infection or genetic background. In BALB/c BMDM, 1,161 genes were differentially expressed in response to Yersinia infection with or without IFN-γ prestimulation. Fourteen genes (1.2%) could only be induced by BALB/c BMDM in response to Yersinia infection after IFN-γ pretreatment. These genes inhibit apoptosis, activate NF-κB and Erk signaling, are chemotactic to neutrophils, and are involved in cytoskeletal reorganization, hence possibly in phagocytosis. Ten of these genes possess a common module of binding sites for Hox, Pou, and Creb transcription factors in 2 kb of upstream genomic sequence, suggesting a possible novel role of these transcription factors in regulation of immune responses. Fifty-two of one thousand fifty differentially expressed genes (4.9%) were induced more strongly by C57BL/6 BMDM in response to Yersinia infection than BALB/c BMDM. These genes activate NK cells, have antibacterial properties, or are involved in sensing chemokines and lipopolysaccharide (LPS). These data show that host resistance factors modulate a surprisingly small, but identifiable and functionally significant, portion of the macrophage transcriptome in response to Yersinia infection.

Role of genetic background in somatic embryogenesis in Medicago

1985 ◽  
Vol 4 (2) ◽  
pp. 111-122 ◽  
Author(s):  
Daniel C. W. Brown ◽  
Atanas Atanassov
Keyword(s):  
Somatic Embryogenesis ◽  
Genetic Background
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