AI Article Synopsis
- Genetic mosaicism refers to the existence of multiple cell types with different genetic makeups originating from a single fertilized egg, impacting various genetic diseases.
- It can lead to a range of outcomes, from severe disorders that are typically fatal in non-mosaic forms to conditions with minor effects, which may still pose risks for passing on harmful genotypes.
- The article will explore the different manifestations of mosaic genetic disease and review current methods of detection and its prevalence in the population.
Article Abstract
Genetic mosaicism is defined as the presence of two or more cell lineages with different genotypes arising from a single zygote. Mosaicism has been implicated in hundreds of genetic diseases with diverse genetic etiologies affecting every organ system. Mosaic genetic disease (MDG) is a spectrum that, on the extreme ends, enables survival from genetic severe disorders that would be lethal in a non-mosaic form. On the milder end of the spectrum, mosaicism can result in little if any phenotypic effects but increases the risk of transmitting a pathogenic genotype. In the middle of the spectrum, mosaicism has been implicated in reducing the phenotypic severity of genetic disease. In this review will describe the spectrum of mosaic genetic disease whilst discussing the status of the detection and prevalence of mosaic genetic disease.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11507335 | PMC |
| http://dx.doi.org/10.3390/genes15101240 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The Kidney-Immune-Brain Axis: The Role of Inflammation in the Pathogenesis and Treatment of Stroke in Chronic Kidney Disease.
Stroke
January 2025
Wolfson Centre for the Prevention of Stroke and Dementia, Nuffield Department of Clinical Neurosciences, University of Oxford, United Kingdom. (D.M.K., P.M.R.).
Cardiovascular diseases such as stroke are a major cause of morbidity and mortality for patients with chronic kidney disease (CKD). The underlying mechanisms connecting CKD and cardiovascular disease are yet to be fully elucidated, but inflammation is proposed to play an important role based on genetic association studies, studies of inflammatory biomarkers, and clinical trials of anti-inflammatory drug targets. There are multiple sources of both endogenous and exogenous inflammation in CKD, including increased production and decreased clearance of proinflammatory cytokines, oxidative stress, metabolic acidosis, chronic and recurrent infections, dialysis access, changes in adipose tissue metabolism, and disruptions in intestinal microbiota.
View Article and Find Full Text PDFSex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy.
Circ Genom Precis Med
January 2025
Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia. (A.B., J.S., A.C., J.I.).
Background: Females with hypertrophic cardiomyopathy present at a more advanced stage of the disease and have a higher risk of heart failure and death. The factors behind these differences are unclear. We aimed to investigate sex-related differences in clinical and genetic factors affecting adverse outcomes in the Sarcomeric Human Cardiomyopathy Registry.
View Article and Find Full Text PDFAlkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome.
View Article and Find Full Text PDFGenetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients.
Acta Derm Venereol
January 2025
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Gain-of-function variants in the voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, have previously been identified in patients with erythromelalgia, a clinical diagnosis defined by intermittent attacks of painful, hot, swollen, and red skin, predominantly involving the hands and feet. Symptoms are induced or aggravated by warming and relieved by cooling.
View Article and Find Full Text PDFThe economic burden of atopic dermatitis in Romania: a broad perspective.
Front Public Health
January 2025
Dermatology Department, Colentina Clinical Hospital, Bucharest, Romania.
Introduction: Atopic dermatitis (AD), a common dermatological condition, is often associated with significant economic and social burdens. Despite extensive studies globally, there is a gap in understanding the impact of this condition in Romania. This study evaluated the economic burden of AD in Romania, considering both direct and indirect costs.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!