Date Time
Mutations Cause Rare Genetic Disease in Children
In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children’s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.
The disorder, scientists found, is caused by mutations in a protein called GEMIN5 one of the key building blocks of a protein complex that controls RNA metabolism in neurons. No mutations in GEMIN5 were previously linked to any genetic disease.
“It’s just like building a house,” said senior author Udai Pandey, Ph.D., associate professor of pediatrics, human genetics and neurology at the University of Pittsburgh School of Medicine. “You take out the most important brick at the base and the whole building falls apart.”
Researchers find rare genetic disease caused by mutations in protein that controls RNA metabolism ANI | Updated: May 07, 2021 16:55 IST
Pittsburgh [US], May 7 (ANI): An international group of collaborators led by researchers at UPMC Children s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia. The research was published in the scientific journal Nature Communications.
The disorder, scientists found, is caused by mutations in a protein called GEMIN5 one of the key building blocks of a protein complex that controls RNA metabolism in neurons. No mutations in GEMIN5 were previously linked to any genetic disease.
Hala T. Borno, MD; Jennifer R. Rider, ScD, MPH; Christine M. Gunn, PhD
A taxonomic revolution is occurring in medicine. Spurred by the halcyon vision of targeted “precision” therapy and enabled by access to massive electronic health data sets, high-throughput multichannel, molecular diagnostic assays, and advances in the understanding of disease biology, researchers have generated a plethora of new disease subclassifications (eTable and eFigure in the Supplement). Variably termed “phenotypes,” “endotypes,” or “subtypes,” these patient groups can share symptoms, biology, or prognosis and are proposed as the basis for precision care.
The fast-paced research of SARS-CoV-2 has followed suit, with more than 60 subtypes proposed in the last year (eTable and eFigure in the Supplement). These subtypes range from simple classifications such as the
Mutations in protein that controls RNA metabolism
ANI
07 May 2021, 21:55 GMT+10
Pittsburgh [US], May 7 (ANI): An international group of collaborators led by researchers at UPMC Children s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia. The research was published in the scientific journal Nature Communications.
The disorder, scientists found, is caused by mutations in a protein called GEMIN5 one of the key building blocks of a protein complex that controls RNA metabolism in neurons. No mutations in GEMIN5 were previously linked to any genetic disease. It s just like building a house, said senior author Udai Pandey, PhD, associate professor of paediatrics, human genetics and neurology at the University of Pittsburgh School of Medicine. You take out the most important brick at the base and the whole building falls apart. GEMIN5 is part of a protein complex that regulates a s
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IMAGE: Associate professor of pediatrics, human genetics and neurology, University of Pittsburgh School of Medicine. view more
Credit: UPMC
PITTSBURGH, May 7, 2021 - In a paper published today in
Nature Communications, an international group of collaborators led by researchers at UPMC Children s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.
The disorder, scientists found, is caused by mutations in a protein called GEMIN5 one of the key building blocks of a protein complex that controls RNA metabolism in neurons. No mutations in GEMIN5 were previously linked to any genetic disease.