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A New Mechanism for an Old Disease

A study in today's Cell, shows how the loss of E3 ubiquitin ligase can cause Angelman syndrome, a genetic disorder that causes developmental problems in children. More than 10 years ago, researchers found that Angelman was caused by a single gene mutation, but could not explain the mechanism. Harvard's Michael Greenberg and his colleagues found that the loss of Ube3A interferes with the brain's ability to use environmental experiences to fine-tune neuronal circuits. Under normal conditions, the Ube3A enzyme tags cellular proteins, such as the synaptic protein Arc, for destruction. However, with a mutated Ube3A, Arc accumulates to higher-than-normal levels, causing an abnormal lowering of neuronal signaling. This study also connects the mutation to other mental retardation disorders. Based on these findings, the researchers are hoping to find a treatment for Angelman syndrome.

The Scan

Genome Sequences Reveal Range Mutations in Induced Pluripotent Stem Cells

Researchers in Nature Genetics detect somatic mutation variation across iPSCs generated from blood or skin fibroblast cell sources, along with selection for BCOR gene mutations.

Researchers Reprogram Plant Roots With Synthetic Genetic Circuit Strategy

Root gene expression was altered with the help of genetic circuits built around a series of synthetic transcriptional regulators in the Nicotiana benthamiana plant in a Science paper.

Infectious Disease Tracking Study Compares Genome Sequencing Approaches

Researchers in BMC Genomics see advantages for capture-based Illumina sequencing and amplicon-based sequencing on the Nanopore instrument, depending on the situation or samples available.

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.