Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by progressive muscle weakness. Adenine nucleotide translocator 1 (ANT1), the only 4q35 gene involved in mitochondrial function, is strongly expressed in FSHD skeletal muscle biopsies. However, its role in FSHD is unclear. In this study, we evaluated ANT1 overexpression effects in primary myoblasts from healthy controls and during Xenopus laevis organogenesis. We also compared ANT1 overexpression effects with the phenotype of FSHD muscle cells and biopsies.
This Article supports SDG 3 and 5 by highlighting a need for greater involvement of in-country authors on research examining a wider range of gendered COVID-19 impacts, as well as increased representation of diverse topics and publications related to COVID-19 and women's well-being focused on lower income countries.
Background: Identifying how greenspace impacts the temperature-mortality relationship in urban environments is crucial, especially given climate change and rapid urbanization.
This Study supports SDG 5 and 3 by examining the role of improved women's agency on the pathway from the intervention to nutritional impacts.
This Article supports SDG 3 and 7 by estimating the prevalence of solid-fuel use with high spatial resolution to explore subnational inequalities, assess local progress, and assess the effects on health in LMICs without universal access to clean fuels.
Drawing on their project investigating multiple aspects of Trustworthy Autonomous Systems (TAS), the authors present their 'TAS for Health at Home' findings, exploring how assistive technology could and should be designed to support healthcare at home using principles of Responsible Research and Innovation (RRI).
![Overview of brain [64Cu]-ATSM retention and mitochondrial abnormalities in cells from Huntington's disease carriers, at premanifest and manifest disease stages, and in presymptomatic YAC128 mice.](https://sdgresources.relx.com/sites/default/files/styles/sus_content_listing_image/public/mitochondrial_and_redox_modifications.jpg?itok=PGIl7bso "Overview of brain [64Cu]-ATSM retention and mitochondrial abnormalities in cells from Huntington's disease carriers, at premanifest and manifest disease stages, and in presymptomatic YAC128 mice.")
Deficits in mitochondrial function and redox deregulation have been attributed to Huntington's disease (HD). However, whether these changes occur in early stages of the disease and can be detected in vivo is still unclear. In this article, the authors analysed changes in mitochondrial function and production of reactive oxygen species (ROS) at early stages and with disease progression.
Most disease-gene association methods do not account for gene-gene interactions, even though these play a crucial role in complex, polygenic diseases like Alzheimer's disease (AD).
This Article supports SDG 3 by estimating the impacts of the centralisation of specialist cancer services, focusing on travel time, equity of access, outcomes, and hospital workload. Using rectal cancer surgery centres as an example the authors found increases in travel times but reductions in readmission rates.
The article suggests actions to reduce the negative effect of pandemics on the healthcare workers in future situations, based on lessons learnt from COVID19.
