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- Exposure to Xenobiotics and Gene-Environment Interactions in Autism Spectrum Disorder: A Systematic Review [CHAPTER 7]Publication . Xavier Santos, João; Rasga, Célia; Moura Vicente, AstridHeritability estimates indicate that genetic susceptibility does not fully explain Autism Spectrum Disorder (ASD) risk variance, and that environmental factors may play a role in this disease. To explore the impact of the environment in ASD etiology, we performed a systematic review of the literature on xenobiotics implicated in the disease, and their interactions with gene variants. We compiled 72 studies reporting associations between ASD and xenobiotic exposure, including air pollutants, persistent and non-persistent organic pollutants, heavy metals, pesticides, pharmaceutical drugs and nutrients. Additionally, 9 studies reported that interactions between some of these chemicals (eg. NO2, particulate matter, manganese, folic acid and vitamin D) and genetic risk factors (eg. variants in the CYP2R1, GSTM1, GSTP1, MET, MTHFR and VDR genes) modulate ASD risk. The chemicals highlighted in this review induce neuropathological mechanisms previously implicated in ASD, including oxidative stress and hypoxia, dysregulation of signaling pathways and endocrine disruption. Exposure to xenobiotics may be harmful during critical windows of neurodevelopment, particularly for individuals with variants in genes involved in xenobiotic metabolization or in widespread signaling pathways. We emphasize the importance of leveraging multilevel data collections and integrative approaches grounded on artificial intelligence to address gene–environment interactions and understand ASD etiology, towards prevention and treatment strategies.
- Familial hypercholesterolemia [CHAPTER 17]Publication . Chora, Joana Rita; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, MafaldaFamilial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism, with a heterozygous frequency of 1/250e1/500 in most of the European countries. Clinically FH is characterized by elevated concentrations of plasma cholesterol that accumulates in arteries and tendons from birth leading to premature coronary heart disease (pCHD). (...)
- Quantitative Proteomic Analysis of Skeletal Muscle Detergent-Resistant Membranes in a Smith-Lemli-Opitz Syndrome MousePublication . Cardoso, Maria Luís; Vitorino, Rui; Reguengo, Henrique; Casal, Susana; Fernandes, Rui; Duarte, Isabel; Lamas, Sofia; Alves, Renato; Amado, Francisco; Marques, FranklimSmith-Lemli-Opitz syndrome (SLOS) is an inborn error of metabolism affecting the last step of cholesterol biosynthesis. It is characterized by a deficiency of the enzyme 7- dehydrocholesterol reductase and accumulation of 7-dehydrocholesterol (7DHC) in cells and body fluids. Given the similarities between 7DHC and cholesterol, 7DHC can be incorporated into cell membranes in lieu of cholesterol. Nevertheless, due to their structural differences and distinct affinity to other membrane components, this substitution alters membrane properties and one can expect to find abnormalities in membrane protein composition. In order to identify differences in membrane proteins that could facilitate our understanding of SLOS physiopathology, we isolated detergent-resistant membranes (DRMs) from the skeletal muscle of Dhcr7T93M/T93M mice and C57/BL6 controls and performed comparative proteomic analysis using iTRAQ for peptide quantification. A total of 133 proteins were identified in the DRM fraction: 17 (13%) proteins demonstrated increased expression in SLOS mice, whereas, 21 (16%) showed decreased expression. Characterization of functional point of view and bioenergetics pathway and transmembrane transport responded to the major differences between the two groups of animals.
- CarcinogenesisPublication . Botelho, Monica C.Cancer, or neoplasia, is a complex disease with multiple causes. Many intrinsic and extrinsic factors influence the development of cancer. Intrinsic or host factors include age, sex, genetic constitution, immune system function, metabolism, hormone levels, and nutritional status. Extrinsic factors include substances eaten, drunk, or smoked; workplace and environmental (air, water, and soil) exposures; natural and medical radiation exposure; sexual behavior; elements of lifestyle such as social and cultural environment, personal behavior, and habits; and infection with bacteria such as chronic cystitis, virus like Epstein Barr and Hepatitis B and C virus and parasites including Schistosoma haematobium, Opisthorchis viverrini, and Clonorchis sinensis. Intrinsic and extrinsic factors can interact with one another to influence the development of cancer. In this article, we will discuss all the varied aspects of research that will ultimately lead to the prevention of cancer in man.
- CarcinogenesisPublication . Botelho, M.; Teixeira, João PauloCancer, or neoplasia, is a complex disease with multiple causes. Many intrinsic and extrinsic factors influence the development of cancer. Intrinsic or host factors include age, sex, genetic constitution, immune system function, metabolism, hormone levels, and nutritional status. Extrinsic factors include substances eaten, drunk, or smoked; workplace and environmental (air, water, and soil) exposures; natural and medical radiation exposure; sexual behavior; and elements of lifestyle such as social and cultural environment, personal behavior, and habits. Intrinsic and extrinsic factors can interact with one another to influence the development of cancer. In this article, we will discuss all the varied aspects of research that will ultimately lead to the prevention of cancer in man.