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Current approaches for diagnosing mitochondrial disorders involve specialist clinical assessment, biochemical analyses and targeted molecular genetic testing. There is now a strong rationale for undertaking first-line genome-wide sequencing, accelerating the speed of diagnosis and avoiding the need for expensive and invasive investigations.
A new study in Cell reports genomic selection of physiological adaptations to hypoxia in breath-hold diving marine hunter–gatherers, the indigenous Bajau people of Southeast Asia.
A recent study in Science reports the mechanism by which temperature affects sex determination in the red-eared slider turtle, Trachemys scripta elegans.
Parallels are increasingly being drawn between prion diseases and other aggregate-mediated neurodegenerative disorders. While prion diseases are a distinct subclass of protein misfolding disorders (PMDs), a better understanding of shared mechanisms is likely to benefit treatment of all PMDs.
The authors review the changes in life history traits brought forth by the Industrial Revolution and the evidence for antagonistic pleiotropic effects, whereby genetic variants associated with higher fitness in the past now predispose to diseases such as cancer and coronary artery disease.
Variation in the composition of translation complexes may serve as a means to regulate gene expression. How translation of select transcripts is achieved by specialized components and the role of this form of dynamic control of gene expression in disease are reviewed.
Recent studies show that structural variation can alter the genome architecture, leading to changes in the regulation of gene expression that cause disease. The authors review the role of genetic structural variation in disease and the pathogenic potential of changes to the 3D genome.
