Failure of mitochondrial quality control causes heart disease

Mutations in the gene that encodes a protein called ANT cause a variety of conditions, such as heart disease, but the underlying mechanism of how these mutations trigger disease has been unclear. Researchers discovered that ANT is critical for a quality control process called mitophagy — which helps to ensure the integrity of the mitochondria network — and found that mutations that lead to a defective quality control system cause heart disease.

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In a first, scientists pinpoint neural activity's role in human longevity

Researchers discover that the activity of the nervous system might influence human longevity. Neural excitation linked to shorter life, while suppression of overactivity appears to extend life span. Protein REST, previously shown to protect aging brains from dementia and other diseases, emerges as a key player in molecular cascade related to aging. Findings suggest future avenues for intervention in diseases ranging from Alzheimer's to bipolar disorder.

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New human reference genome resources help capture global genetic diversity

Scientists have assembled a set of genetic sequences that enable the reference genome to better reflect global genetic diversity. The new sequences improve the utility of the human reference genome, a touchstone resource for modern genetics and genomics research.

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Sequencing African genomes yields new data resource with broad applicability

By collaborating globally in a new, large-scale effort, researchers have made strong progress in sequencing genomes from regions and countries across Africa. These findings will enable more broadly representative and relevant studies ranging from basic through clinical genetics.

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New insights into biological underpinnings of schizophrenia

Researchers have implicated 10 new genes in the development of schizophrenia using a method called whole exome sequencing, the analysis of the portion of DNA that codes for proteins. A global consortium of schizophrenia research teams incorporated genetic data from over 125,000 people to gain deeper insights into the genetic underpinnings of schizophrenia.

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Did early mammals turn to night life to protect their sperm?

Humans are diurnal — we are active in the day and sleep at night. But diurnalism is by far the exception rather the rule in mammals. About 250-230 million years ago, the mammalian ancestors, called the therapsids, became exclusively nocturnal, and stayed so until the demise of the dinosaurs 66 million years ago.

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