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
DMM Outstanding Paper Prize
"I am honored to receive the DMM 2020 Prize! This project had more than the average number of trials and tribulations, which is saying a lot, and now I know it was all worth it!"
Congratulations to Sarah Colijn, winner of the DMM Outstanding Paper Prize 2020. Sarah’s work challenges research regarding atherosclerosis and necroptosis to rethink the role of RIPK3.
An Fgfr3-activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton
In this month’s Editor’s Choice, Laurence Legeai-Mallet and colleagues show how Fgfr3 hyperactivation affects immature osteoblasts, contributing to the bone modifications observed in achondroplasia.
Life after a Travelling Fellowship
Ahead of the upcoming application deadline for a Travelling Fellowship on 31 May, Sina Krokowski talks about the ongoing impact of her trip in 2015, when she visited the Carballido-López lab in Paris to learn a technique that was vital for her PhD.
The DMM Conference Travel Grant deadline is also fast approaching. Apply for a grant to attend an event, virtual or otherwise, by 17 May.
Virtual Meeting - Developmental Disorders: From Mechanism to Treatment
A collaboration between the Development and Disease Models & Mechanisms journal teams, this virtual Meeting will unite developmental biologists, human geneticists and clinical researchers to focus on building bridges from bench to clinic. Register your interest and find out more.
Automated in vivo drug screen in zebrafish identifies synapse-stabilising drugs with relevance to spinal muscular atrophy
New work from the Becker Lab at the University of Edinburgh details an automated and high-throughput screening platform to identify compounds relevant to motor neuron disease using younger, less-pigmented zebrafish embryos.
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