Fanconi anemia (FA) has been investigated since early studies based on two definitions, namely defective DNA repair and proinflammatory condition. The former definition has built up the grounds for FA diagnosis as excess sensitivity of patients’ cells to xenobiotics as diepoxybutane and mitomycin C, resulting in typical chromosomal abnormalities. Another line of studies has related FA phenotype to a prooxidant state, as detected by both in vitro and ex vivo studies. The discovery that the FA group G (FANCG) protein is found in mitochondria (Mukhopadhyay et al., 2006) has been followed by an extensive line of studies providing evidence for multiple links between other FA gene products and mitochondrial dysfunction. The fact that FA proteins are encoded by nuclear, not mitochondrial DNA does not prevent these proteins to hamper mitochondrial function, as it is recognized that most mitochondrial proteins are of nuclear origin. This body of evidence supporting a central role of mitochondrial dysfunction, along with redox imbalance in FA, should lead to the re-definition of FA as a mitochondrial disease.
To mark World Health Day 2021, RELX’s Global Head of Corporate Responsibility, Dr Márcia Balisciano, talks to Dr Richard McCallum and Dr Erika Claud about the need for a fairer and healthier world for all.
Elsevier,
Reciprocal Translation Between Pathophysiology and Practice in Health and Disease, 2021, Pages 93-107
This chapter aligns with the SDG goal 3 of good health and wellbeing by showing the role of the gut microbiota on liver function, disease, and inflammation.
April 7th of each year marks the celebration of World Health Day. From its inception at the First Health Assembly in 1948 and since taking effect in 1950, the celebration has aimed to create awareness of a specific health theme to highlight a priority area of concern for the World Health Organization. To raise awareness of this year's theme - building a fairer, healthier world for everyone - Elsevier presents a curated list of free access journal articles and book chapters.
This book chapter advances SDGs 3, 12 and 13 by discussing the entrance of microplastics in a range of environments, including oceans, surface waters, wastewaters, soils, sediments, the atmosphere, and food.
This book chapter advances SDGs 3, 12, and 13 by discussing carbonaceous aerosols that are one of the important components of the aerosol and play a significant role in changing climate, fluctuating air quality and health of the living being.
This chapter advances the UN SDG goal 3 and 17 in exploring the link between metabolites of shikimate pathway and Alzheimer disease
This chapter advances the UN SDG goal 3 and 17 in understanding Alzheimer's disease at the cellular level
Background: The population of older adults (ie, those aged ≥55 years) in England is becoming increasingly ethnically diverse.
