E-Mail
IMAGE: Image of cilia in a mouse brain using Scanning Electron Microscopy, imaged and processed by Calvin S. Carter. view more
Credit: Calvin S. Carter
Mice with symptoms that mimic Bardet-Biedl Syndrome (BBS) have difficulty with learning and generating new neurons in the hippocampus. However, according to a new study by Thomas Pak, Calvin Carter, and Val Sheffield of the University of Iowa, published April 22nd in the journal
PLOS Genetics, these mental defects can be successfully treated with lithium.
BBS is a rare genetic disorder that causes intellectual disability, vision loss and obesity, and sometimes kidney problems and extra fingers and toes. It is one of several ciliopathies, which are diseases that stem from defective cilia tiny, finger-like projections on the surface of cells that play important roles in moving fluids, sensing the environment and signaling between cells. Pak, Carter, Sheffield and colleagues wanted to learn more about how ciliop
E-Mail
PHILADELPHIA Scientists in the Perelman School of Medicine at the University of Pennsylvania have uncovered the molecular causes of a congenital form of dilated cardiomyopathy (DCM), an often-fatal heart disorder.
This inherited form of DCM which affects at least several thousand people in the United States at any one time and often causes sudden death or progressive heart failure is one of multiple congenital disorders known to be caused by inherited mutations in a gene called
LMNA. The
LMNA gene is active in most cell types, and researchers have not understood why
LMNA mutations affect particular organs such as the heart while sparing most other organs and tissues.