Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.

Biallelic variants in result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

The mitoribosome synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders, and frequently show combined oxidative phosphorylation deficiency.

The association between vaping and subsequent initiation of cigarette smoking in young Australians from age 12 to 17 years: a retrospective cohort analysis using cross-sectional recall data from 5114 adolescents.

Objective: The objective of this study was to estimate the association between vaping and subsequent initiation of smoking among Australian adolescents and explore the impact of design and analytical methods in previous studies.

Methods: We conducted a retrospective cohort analysis of cross-sectional data from 5114 Australian adolescents aged 14-17 recalling information on smoking and vaping initiation from age 12 to 17. The outcome was smoking initiation, analysed with negative-binomial regression to estimate incidence rate ratios (IRRs) for vape status (ever-vaped vs never-vaped) as a time-varying exposure.

A shock to the (health) system: experiences of adults with rare disorders during the first COVID-19 wave.

Background: Before COVID-19, people with rare diseases (RD) experienced numerous disparities in quality of life and healthcare access and quality, yet little is known about the experiences of this underserved group during the pandemic.

Results: During the first wave of the COVID-19 pandemic in the United States, spring and summer of 2020, 759 participants representing 231 unique RDs responded to open-ended questions about the impact of the pandemic on life with a RD, healthcare access, and coping. Qualitative conventional content analysis was used to analyze responses.