scholarly journals The study of levels from redox-active elements in cerebrospinal fluid of amyotrophic lateral sclerosis patients carrying disease-related gene mutations shows potential copper dyshomeostasis

Metallomics ◽  
2020 ◽  
Vol 12 (5) ◽  
pp. 668-681 ◽  
Author(s):  
Federica Violi ◽  
Nikolay Solovyev ◽  
Marco Vinceti ◽  
Jessica Mandrioli ◽  
Marianna Lucio ◽  
...  

Gene-environment interaction is as a possible key factor in the development of ALS. The levels of redox species of Cu, Fe, and Mn were assessed in cerebrospinal fluid, showing a possible positive association between Cu and genetic ALS.

2020 ◽  
pp. 105566562096269
Author(s):  
Jinsil Park ◽  
Mitsushiro Nakatomi ◽  
Masaaki Sasaguri ◽  
Manabu Habu ◽  
Osamu Takahashi ◽  
...  

Objective: Cleft palate is among the most frequent congenital defects in humans. While gene–environment multifactorial threshold models have been proposed to explain this cleft palate formation, only a few experimental models have verified this theory. This study aimed to clarify whether gene–environment interaction can cause cleft palate through a combination of specific genetic and environmental factors. Methods: Msx1 heterozygosity in mice ( Msx1+/−) was selected as a genetic factor since human MSX1 gene mutations may cause nonsyndromic cleft palate. As an environmental factor, hypoxic stress was induced in pregnant mice by administration of the antiepileptic drug phenytoin, a known arrhythmia inducer, during palatal development from embryonic day (E) 11 to E14. Embryos were dissected at E13 for histological analysis or at E17 for recording of the palatal state. Results: Phenytoin administration downregulated cell proliferation in palatal processes in both wild-type and Msx1+/− embryos. Bone morphogenetic protein 4 ( Bmp4) expression was slightly downregulated in the anterior palatal process of Msx1+/− embryos. Although Msx1+/− embryos do not show cleft palate under normal conditions, phenytoin administration induced a significantly higher incidence of cleft palate in Msx1+/− embryos compared to wild-type littermates. Conclusion: Our data suggest that cleft palate may occur because of the additive effects of Bmp4 downregulation as a result of Msx1 heterozygosity and decreased cell proliferation upon hypoxic stress. Human carriers of MSX1 mutations may have to take more precautions during pregnancy to avoid exposure to environmental risks.


2021 ◽  
Author(s):  
LaTasha R Holden ◽  
Rasheda Haughbrook ◽  
Sara Ann Hart

Gene–environment processes tell us how genes and environments work together to influence children in schools. One type of gene–environment process that has been extensively studied using behavioral genetics methods is a gene-by-environment interaction. A gene-by-environment interaction shows us when the effect of your context differs depending on your genes, or vice versa, when the effect of your genes differs depending on your context. Developmental behavioral geneticists interested in children’s school achievement have examined many different contexts within the gene-by-environment interaction model, including contexts measured from within children’s home and school environments. However, this work has been overwhelmingly focused on White children, leaving us with non-inclusive scientific evidence. This can lead to detrimental outcomes when we overgeneralize this non-inclusive scientific evidence to racialized groups. We conclude with a call to include racialized children in more research samples.


Author(s):  
Suzanne Vrshek-Schallhorn ◽  
Bradley M Avery ◽  
Vaibhav Sapuram

Gene–environment interaction (G×E) research in humans seeks to answer how specific genetic variation contributes to marked individual differences in responding to life experiences, primarily in regard to psychological functioning. In this chapter, we highlight theoretical models underlying G×E research, aspects of its history and controversies, the current state of G×E knowledge, and emerging and future directions for G×E research. Throughout this discussion, we show how this work has emerged across multiple units or levels of analyses, ranging from those closer to the biological functioning of the genes involved, such as neural activity in functional imaging, to more distal outcomes such as diagnoses of psychopathology. Important future directions for G×E research are transitioning from single variant to multiple variant approaches, and more carefully conceptualizing and measuring risk environments while also boosting sample sizes. Ultimately, by attending to these issues, G×E research can not only contribute to early detection of individuals with risky genetic and environmental profiles, but can also aid in revealing etiological pathways, thereby elucidating novel treatment approaches to mental illnesses.


2011 ◽  
Vol 17 (5) ◽  
pp. 477-484 ◽  
Author(s):  
Jessica Dennis ◽  
Daniel Krewski ◽  
Frédérique-Sophie Côté ◽  
Eve Fafard ◽  
Julian Little ◽  
...  

1997 ◽  
Vol 78 (01) ◽  
pp. 457-461 ◽  
Author(s):  
S E Humphries ◽  
A Panahloo ◽  
H E Montgomery ◽  
F Green ◽  
J Yudkin

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