genetics Archives - Well Referenced

Prostate Cancer Review: Genetics, Diagnosis, Treatment Options, and Alternative Approach

This 2022 comprehensive review discusses the genetic factors, diagnostic methods, current treatments, and emerging alternative therapies for prostate cancer. It highlights the role of genetic mutations in disease onset and progression, standard diagnostic tools like PSA testing and biopsies, and conventional treatments including surgery, radiotherapy, and hormone therapy. The review

June 26, 2025 No Comments

Factors That May Enhance Longevity: A Literature Review and a Comprehensive Update for Aesthetic Surgeons

This 2016 literature review identifies 14 factors positively influencing human longevity, including caloric restriction, physical activity, happiness, vitamin intake, vegetarian or Mediterranean diet, oriental practices, socioeconomic status, genetics, sexual activity, sleep, moderate wine consumption, religion, and education. The review emphasizes the importance of integrating these factors into postoperative care for

June 26, 2025 No Comments

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

In this pivotal 2017 study published in the New England Journal of Medicine, Shi et al. investigate the link between NAD+ deficiency and congenital malformations. Through genomic sequencing of families with multiple congenital anomalies, the researchers identified loss-of-function mutations in the HAAO and KYNU genes, which are integral to the

June 26, 2025 No Comments

NAD+ homeostasis in human health and disease

This comprehensive review by Zapata-Pérez et al. (2021) delves into the pivotal role of nicotinamide adenine dinucleotide (NAD+) in human physiology and pathology. NAD+, a central redox cofactor and substrate for key metabolic enzymes, is essential for energy metabolism, DNA repair, and cell signaling. The authors distinguish between primary NAD+

June 26, 2025 No Comments

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

This 2021 study by Szot et al. presents new cases that broaden the understanding of Congenital NAD Deficiency Disorder (CNDD), a rare autosomal recessive condition resulting from mutations in the NAXE gene. The authors describe patients exhibiting a spectrum of clinical features, including developmental delay, hypotonia, seizures, and brain abnormalities.

June 26, 2025 No Comments

Nuclear DNA damage signalling to mitochondria in ageing

This comprehensive review explores how nuclear DNA damage, accumulating with age, initiates signaling pathways that impair mitochondrial function, contributing to aging and age-related diseases. The authors identify three primary nuclear-to-mitochondrial (NM) signaling pathways: (1) direct communication between nuclear DNA repair mechanisms and mitochondrial maintenance; (2) metabolic reprogramming triggered by nuclear

June 26, 2025 No Comments

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

In this 2020 study published in the American Journal of Human Genetics, researchers identified bi-allelic mutations in the NADSYN1 gene as a cause of multiple organ defects in individuals with congenital NAD deficiency disorders. The study involved clinical and genetic analyses of affected individuals, revealing that mutations in NADSYN1, which

June 26, 2025 No Comments

Survival of Laryngeal Cancer Patients Depending on Zinc Serum Level and Oxidative Stress Genotypes

This 2021 study by Kruk et al., published in Nutrients, investigated the relationship between serum zinc levels, oxidative stress-related genetic polymorphisms, and survival outcomes in laryngeal cancer patients. The study included 300 patients diagnosed with laryngeal squamous cell carcinoma, assessing their serum zinc concentrations and genotyping for polymorphisms in genes

June 26, 2025 No Comments

Riboflavin Status Modifies the Effects of Methylenetetrahydrofolate Reductase (MTHFR) and Methionine Synthase Reductase (MTRR) Polymorphisms on Homocysteine

This 2014 cross-sectional study, published in Genes & Nutrition, examined how riboflavin status influences the relationship between genetic polymorphisms in MTHFR (677C>T) and MTRR (66A>G and 524C>T) and plasma total homocysteine (tHcy) levels in 771 adults aged 18–75 years. The study found that individuals with the MTHFR 677T allele and

June 26, 2025 No Comments

MTHFR and risk of stroke and heart disease in a low-folate population: a prospective study of 156 000 Chinese adults

This study analyzed the relationship between the MTHFR gene polymorphism (C677T) and cardiovascular risks in a Chinese population with low folate intake. It found that individuals with the TT genotype had a significantly higher risk of stroke and heart disease compared to those with the CC genotype. The findings suggest

June 26, 2025 No Comments

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