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Hereditary Hemochromatosis Variant Implicated in Iron Deposits in Brain, Male Movement Disorder

In JAMA Neurology, investigators at the University of California, San Diego, the University of Oslo, and other centers retrospectively consider the brain and movement consequences of a variant linked to hereditary hemochromatosis (HH), an iron overload condition inherited in an autosomal recessive manner. Starting with data from almost 488,300 genotyped UK Biobank participants, the team identified 2,889 individuals who were homozygous for a p.C282Y variant linked to HH, including 165 p.C282Y homozygotes and 671 control individuals with corresponding brain magnetic resonance-based neuroimaging profiles. The results suggest that the homozygous version of the HH variant is linked to subcortical motor circuit iron deposits in the brain, while a broader UK Biobank analysis uncovered movement disorders in males carrying two copies of the p.C282Y variant. "Given the success of early treatment of HH in preventing the negative health manifestations of the disease outside of the nervous system, our findings suggest an additional potential benefit to consider in discussions around the public health implications of early genetic screening in populations with a high prevalence of this variant," the authors conclude.

The Scan

Machine Learning Helps ID Molecular Mechanisms of Pancreatic Islet Beta Cell Subtypes in Type 2 Diabetes

The approach helps overcome limitations of previous studies that had investigated the molecular mechanisms of pancreatic islet beta cells, the authors write in their Nature Genetics paper.

Culture-Based Methods, Shotgun Sequencing Reveal Transmission of Bifidobacterium Strains From Mothers to Infants

In a Nature Communications study, culture-based approaches along with shotgun sequencing give a better picture of the microbial strains transmitted from mothers to infants.

Microbial Communities Can Help Trees Adapt to Changing Climates

Tree seedlings that were inoculated with microbes from dry, warm, or cold sites could better survive drought, heat, and cold stress, according to a study in Science.

A Combination of Genetics and Environment Causes Cleft Lip

In a study published in Nature Communications, researchers investigate what combination of genetic and environmental factors come into play to cause cleft lip/palate.