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Lithium treats intellectual defects in mouse model of Bardet-Biedl Syndrome


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IMAGE: Image of cilia in a mouse brain using Scanning Electron Microscopy, imaged and processed by Calvin S. Carter.
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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 ....

United States , Calvin Carter , Thomas Pak , Louis Stokes Va Medical Center , American Heart Association , Brockman Foundation , National Institute Of Health , Allen Initiative In Brain Health , University Of Iowa , Royj Carver Charitable , Bardet Biedl Syndrome , Val Sheffield , National Institute , Charitable Trust , Louis Stokes , American Heart Association Allen Initiative , Brain Health , Cognitive Impairment , ஒன்றுபட்டது மாநிலங்களில் , கால்வின் கார்ட்டர் , தாமஸ் பக் , லூயிஸ் ஸ்டோக்ஸ் வா மருத்துவ மையம் , அமெரிக்கன் இதயம் சங்கம் , புரோக்மேன் அடித்தளம் , தேசிய நிறுவனம் ஆஃப் ஆரோக்கியம் , ஆலன் முயற்சி இல் மூளை ஆரோக்கியம் ,

Stem cell study illuminates the cause of a devastating inherited heart disorder


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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. ....

University Of Pennsylvania , United States , Pennsylvania Hospital , New Jersey , Qiaohong Wang , Julie Heffler , Benjamin Prosser , Kiran Musunuru , Parisha Shah , Ricardo Linares Saldana , Dilip Thomas , Joseph Wu , Rajan Jain , Andrey Poleshko , Anjali Owens , Kenneth Bedi , Daniel Rader , Deepti Abbey , Joshua Rhoades , Nazish Sayed , Michael Morley , Kenneth Margulies , David Frank , Wenli Yang , Thomas Cappola , Matthew Caporizzo ,