Category Health/Medical

Unlocking the mysteries of our senses: An NIH Study shows that two young patients with a mutation in the PIEZO2 have problems with touch and proprioception, or body awareness. Credit: Bönnemann Lab, NIH/NINDS, Bethesda, MD

Study of rare genetic disorder reveals importance of touch and body awareness. With the help of 2 young patients with a unique neurological disorder, an initial study by scientists at the NIH suggests that a gene called PIEZO2 controls specific aspects of human touch and proprioception, a “sixth sense” describing awareness of one’s body in space. Mutations in the gene caused the 2 to have movement and balance problems and the loss of some forms of touch...

Picture of A. fumigatus growth in solid blood media. White spots in wells show fungal growth while clear wells shows no growth because of SidA inhibition. Credit: Julia S. Martin del Campo

Researchers with the Virginia Tech Center for Drug Discovery have identified a compound that blocks the growth of a fungus that causes deadly lung infections and allergic reactions in people with compromised immune systems. The research team targeted the switch that allows the fungus Aspergillus fumigatus to survive in iron-deficient conditions like the human body. Specifically, they targeted an enzyme known as SidA, which is essential for the synthesis of siderophores that are made during infection to steal iron from human proteins.

Furthermore, by performing high-throughput screening in the center’s Dr...

Highlights •PKCλ/ι is required for Paneth cell differentiation •PKCλ/ι reduces EZH2 stability and promotes Atoh1 and Gfi1 expression •PKCλ/ι induces intestinal epithelial cell survival through the repression of JNK •PKCλ/ι loss enhances intestinal inflammation and cancer

A promising new target for future drugs to treat inflammatory bowel disease (IBD) has been found. The study also indicates that another protein, protein kinase C (PKC) λ/ι, may serve as a biomarker of IBD severity. “The intestine is protected by specialized cells, called Paneth cells, that secrete antimicrobial peptides,” said Jorge Moscat, Ph.D., deputy director and professor in the NCI-designated Cancer Center...

Highlights •In vivo tracing of parent-specific DNA methylation dynamics at single-cell resolution •Cell-type-specific methylation signatures at the Dlk-Dio3 IG-DMR during development •Dynamic parent- and cell-type-specific DNA methylation changes in the adult brain

Parental imprinting – a form of gene control passed down from parents to offspring – is far more dynamic than previously thought and may contribute to changes in the brain and other tissues over time. This finding by Whitehead Institute scientists challenges current understandings of gene regulation via DNA methylation, from development through adulthood. Methylation – attachment of methyl groups to DNA – is an epigenetic phenomenon that affects gene expression...