Ornithine transcarbamylase deficiency (OTCD) is a type of urea cycle disorder – a disease in which the body fails to clear toxic ammonia from the bloodstream. The accumulation of ammonia in the blood (hyperammonaemia) can lead to potentially life-threatening metabolic disturbances in affected individuals, known as acute metabolic decompensation. Several factors, including infection, are thought to precipitate these metabolic aberrations. In this study, Peter McGuire and colleagues identify infection as the most common cause of acute decompensation in a prospective cohort of individuals with OTCD. To explore the metabolic changes that occur, they developed an experimental mouse model in which decompensation with hyperammonaemia is triggered by influenza infection. In response to infection, mice demonstrated altered hepatic immune function and reductions in urea cycle enzyme activity and urea cycle intermediates. These findings could help guide the development of new approaches to manage acute metabolic decompensation in OTCD and related inborn errors of metabolism. Page 205
New Special Issue: Translating Multiscale Research in Rare Disease. Edited by Monica Justice, Monkol Lek, Karen Liu and Kate Rauen.
This special issue features original Research, Resources & Methods and Review-type articles that aim to interrogate the mechanisms of rare diseases to foster meaningful clinical progress in their diagnosis and treatment.
The role of the International Society for Stem Cell Research (ISSCR) guidelines in disease modelling
The ISSCR provides comprehensive guidelines and standards for using human stem cells in biomedical research. In this Editorial, Cody Juguilon and Joseph Wu discuss how and why these should be incorporated in disease modelling research.
Subject collection: Building advocacy into research
DMM’s series - Building advocacy into research - features interviews, ‘The Patient’s Voice’, with patients and advocates for a range of disease types, with the aim of supporting the highest quality research for the benefit of all patients affected by disease.
Read & Publish Open Access publishing: what authors say
We have had great feedback from authors who have benefitted from our Read & Publish agreement with their institution and have been able to publish Open Access with us without paying an APC. Read what they had to say.
Biologists @ 100 - join us in Liverpool in March 2025
We are excited to invite you to a unique scientific conference, celebrating the 100-year anniversary of The Company of Biologists, and bringing together our different communities. The conference will incorporate the Spring Meetings of the BSCB and the BSDB, the JEB Symposium Sensory Perception in a Changing World and a DMM programme on antimicrobial resistance. Find out more and register your interest to join us in March 2025 in Liverpool, UK.
Social media
