A lysosomal storage disorder, mucolipidosis type II causes edema of the internal organs and skeletal dysplasia. Children diagnosed with the genetic disease often die before they reach age seven. Now, researchers have identified a new gene implicated in the disease, TMEM251, which is necessary for lysosomes to function correctly. Lysosomes are organelles within all cells...
Category: <span>Genetics</span>
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A new treatment improves key symptoms in Williams-Beuren syndrome
by Universitat Pompeu Fabra – Barcelona JZL184 administration regresses cardiac hypertrophy and the expression of cardiac Cnr1 alterations of complete deletion (CD) mice. Credit: eLife (2022). DOI: 10.7554/eLife.72560 Using an in vivo model that mimics the genetic alteration of Williams-Beuren syndrome, researchers from the UPF’s Neuropharmacology Laboratory—NeuroPhar, in collaboration with several other universities, found alterations in the...
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Study of over five million people’s DNA reveals genetic links to height
by Queen Mary, University of London Credit: Unsplash/CC0 Public Domain The study, published today (12 October) in Nature, is the largest ever genome-wide association study, using the DNA of over 5 million people from 281 contributing studies. It plugs a sizeable gap in our understanding of how our genetic differences account for differences in height. Over...
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Age vs. genetics: Which is more important for determining how we age?
by Robert Sanders, University of California – Berkeley Age impacts the predictive power of eQTLs in many tissues. Credit: Nature Communications (2022). DOI: 10.1038/s41467-022-33509-0 Amid much speculation and research about how our genetics affect the way we age, a University of California, Berkeley, study now shows that individual differences in our DNA matter less as we get...
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How genetics influences our body weight beyond genes
by Fabio Bergamin, ETH Zurich The role of miR-7 in Sim1 neurons to regulate mammalian energy homeostasis and neuroendocrine function. In mice, hypothalamic expression of miR-7 is regulated by metabolic state. In humans, variants in the locus encompassing miR-7 are associated with reduced expression of HNRNPK/MIR-7-1. miR-7 regulates the expression of the noncoding RNAs Cyrano...
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Zinc could treat a rare genetic disorder
by University of Geneva Structure of the GNAO1 gene with the location of the three most frequent mutations. Credit: Larasati et al., Sci. Adv. 8, eabn9350 (2022) 21 October 2022 Pediatric encephalopathies of genetic origin cause severe motor and intellectual disabilities from birth. One of these diseases, first identified in 2013, is caused by mutations in the...
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3D map reveals DNA organization within human retina cells
by National Eye Institute Credit: Unsplash/CC0 Public Domain National Eye Institute researchers mapped the organization of human retinal cell chromatin, the fibers that package 3 billion nucleotide-long DNA molecules into compact structures that fit into chromosomes within each cell’s nucleus. The resulting comprehensive gene regulatory network provides insights into regulation of gene expression in general,...
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Study may have solved a mystery surrounding Crohn’s disease
Reviewed by Emily Henderson, B.Sc. Oct 5 2022 A new study may have solved a mystery surrounding Crohn’s disease, a type of inflammatory bowel disease in which immune defenses meant to attack invading microbes instead mistakenly target the body’s own digestive tract. Norovirus, a common infection that causes vomiting and diarrhea, is one of several...
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Researchers identify flu-fighting pathways and genes essential for influenza a immune defense
by The Mount Sinai Hospital Influenza viruses, like the model shown here, display several kinds of surface proteins on their exteriors. Credit: NIAID Researchers have identified the gene TDRD7 as a key regulator against influenza A virus (IAV), which causes respiratory tract infections in 5 to 20 percent of the human population. These findings could...
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Unique gene signature could help predict response to chemotherapy
by The Francis Crick Institute In vitro anticancer drug screen. a Volcano plots showing differences in IC50 values between RAS high and low CCLE cell lines. Drugs with enriched target annotations in the significant sensitive and resistant groups are highlighted (hypergeometric test) Drugs with an absolute log2 fold change >1 and fdr < 0.05 (linear model...