Sapna Sedha

Bio: Sapna Sedha is an academic researcher from Department of Biotechnology. The author has contributed to research in topics: Benzyl butyl phthalate & Phthalate. The author has an hindex of 2, co-authored 2 publications receiving 7 citations.

Genetic Polymorphism and Alcohol Metabolism

Abstract: Throughout the world, human population experiment with alcohol, result into shortand long-term consequences including increased risk of accidental injuries, risky sexual behavior and lower education attainment. Due to polymorphism in the gene whose product enzymes are responsible for alcohol metabolism, serious health consequences including liver cirrhosis and hepatocarcinoma can occur. Enzyme alcohol dehydrogenase, CYP450 and catalase are alcohol metabolizing enzymes. Polymorphism in any one or all of the enzymes will result in defective alcohol metabolism and acetaldehyde accumulation cause serious health problems. This article mainly focuses on the consequences of alcohol consumption at genetic level that ultimately affect alcohol metabolism resulting in various health disorders.

A Class of Environmental and Endogenous Toxins Induces BRCA2 Haploinsufficiency and Genome Instability

Abstract: Mutations truncating a single copy of the tumor suppressor, BRCA2, cause cancer susceptibility. In cells bearing such heterozygous mutations, we find that a cellular metabolite and ubiquitous environmental toxin, formaldehyde, stalls and destabilizes DNA replication forks, engendering structural chromosomal aberrations. Formaldehyde selectively depletes BRCA2 via proteasomal degradation, a mechanism of toxicity that affects very few additional cellular proteins. Heterozygous BRCA2 truncations, by lowering pre-existing BRCA2 expression, sensitize to BRCA2 haploinsufficiency induced by transient exposure to natural concentrations of formaldehyde. Acetaldehyde, an alcohol catabolite detoxified by ALDH2, precipitates similar effects. Ribonuclease H1 ameliorates replication fork instability and chromosomal aberrations provoked by aldehyde-induced BRCA2 haploinsufficiency, suggesting that BRCA2 inactivation triggers spontaneous mutagenesis during DNA replication via aberrant RNA-DNA hybrids (R-loops). These findings suggest a model wherein carcinogenesis in BRCA2 mutation carriers can be incited by compounds found pervasively in the environment and generated endogenously in certain tissues with implications for public health.

Current Insights into Potential Effects of Micro-Nanoplastics on Human Health by in-vitro Tests

Abstract: Humans are exposed to micro- and nanoplastics (MNPLs) through inhalation, ingestion and, to a lesser extent, dermal contact. In recent years, new insights indicate the potential of MNPLs to cause damages to human health. Particle toxicity can include oxidative stress, inflammatory lesions, and then increased internalization or translocation through tissues. On the other hand, plastic additives are used in plastic particles, once internalized, can release toxic substances. It is noteworthy that the potential effects of MNPLs encompass a wide range of polymers and chemical additives, showing various physicochemical and toxicological properties, and the size, shape and surface properties are other variables influencing their effects. In spite of the research carried out recently, MNPLs research is in its early stages, and further investigation is required. In this review article, the knowledge of human exposure routes and the recent results on the toxicological effects of MNPLs in human health are presented and discussed. Finally, the current limitations and the main gaps in the body of knowledge are summarised.

The Molecular Basis of Alcohol Use Disorder (AUD). Genetics, Epigenetics, and Nutrition in AUD: An Amazing Triangle.

Abstract: Alcohol use disorder (AUD) is a very common and complex disease, as alcohol is the most widely used addictive drug in the world. This disorder has an enormous impact on public health and social and private life, and it generates a huge number of social costs. Alcohol use stimulates hypothalamic–pituitary–adrenal (HPA) axis responses and is the cause of many physical and social problems (especially liver disease and cancer), accidental injury, and risky sexual behavior. For years, researchers have been trying to identify the genetic basis of alcohol use disorder, the molecular mechanisms responsible for its development, and an effective form of therapy. Genetic and environmental factors are known to contribute to the development of AUD, and the expression of genes is a complicated process that depends on epigenetic modulations. Dietary nutrients, such as vitamins, may serve as one these modulators, as they have a direct impact on epigenomes. In this review, we connect gathered knowledge from three emerging fields—genetics, epigenetics, and nutrition—to form an amazing triangle relating to alcohol use disorder.