Findings of a recent genetic study on developmental brain disorders may be the “tip of an iceberg” revealing factors involved with a number of congenital diseases, according to UC Irvine researchers.
The study is the first to find that mutations in the structural proteins in brain cells – beta-actin – are linked to disorders such as deafness and dystonia, a debilitating neural disease, and further suggests that genetic variants of these proteins may play a wider role with inherited human diseases. Study results appeared in the June issue of the American Journal of Human Genetics.
The findings give vital clues to the basis of some developmental disorders and make early diagnosis possible for diseases such as dystonia, allowing for greater treatment opportunities, said Dr. Vincent Procaccio of UCI’s Center for Molecular and Mitochondrial Medicine and Genetics and lead author, though the study does not point to potential therapies.
“These types of actin proteins are prevalent throughout the body and play a key role in processes that are an essential part of development,” said Procaccio, who is also an assistant professor of pediatrics. “To find that these mutations are involved with brain disorders seems to be the tip of an iceberg. Since beta-actin is involved with many developmental cell functions, it would appear that its genetic variants can be involved with a number of other congenital disorders.”
Procaccio and his colleagues studied brain tissue samples from deceased twins who had a number of developmental disabilities including dystonia, a neurological disorder that causes twisting or jerking movements in parts of the body. Genetic analysis revealed mutations in the beta-actin gene. These mutations affected protein conformation, which would not allow beta-actin to bind with ATP – the chemical fuel synthesized by mitochondria that give a cell its energy.
Beta-actin is a structural protein that helps form the cytoskeleton – a cell’s skeleton that gives it structure and strength. Unable to receive fuel, the mutated beta-actin proteins break down, ultimately damaging and destroying the cell. In the brain, this leads to the neural tissue damage related to congenital neurological disorders like dystonia.
Taking this information, Procaccio and his fellow researchers are working to demonstrate that beta-actin mutations are a common cause of neurological disorders. They are currently analyzing several DNA samples from patients to identify additional abnormalities. In addition, they are investigating the cellular and biophysical abnormalities resulting from beta-actin mutations, which will serve as a basis to identify other mutations and disease phenotypes arising from genetic abnormalities of beta-actin proteins.
“Ultimately, we hope to prove that the identification of genetic abnormalities of the beta-actin are likely to explain the causes of a spectrum of disease phenotypes, including congenital malformation syndromes and other inherited degenerative diseases, that are presently poorly understood,” he said.Study co-authors are Antonio Davila and Richard Jimenez of UCI; Gloria Salazar, Shoichiro Ono, Melanie Styers, Victor Faundez, Marla Gearing, Jorge Juncos, Claire-Anne Gutekunst and Bruce Wainer of Emory University in Atlanta; Estelle Sontag and Jean Marie Sontag of University of Texas Southwest Medical Center in Dallas; and Germana Meroni and Bianca Fontanella of the Telethon Institute of Genetics and Medicine in Naples, Italy. The National Institutes of Health supported the study.
About the University of California, Irvine: The University of California, Irvine is a top-ranked university dedicated to research, scholarship and community service. Founded in 1965, UCI is among the fastest-growing University of California campuses, with more than 24,000 undergraduate and graduate students and about 1,400 faculty members. The second-largest employer in dynamic Orange County, UCI contributes an annual economic impact of $3.3 billion. For more UCI news, visit www.today.uci.edu.
Television: UCI has a broadcast studio available for live or taped interviews. For more information, visit www.today.uci.edu/broadcast.
News Radio: UCI maintains on campus an ISDN line for conducting interviews with its faculty and experts. The use of this line is available free-of-charge to radio news programs/stations who wish to interview UCI faculty and experts. Use of the ISDN line is subject to availability and approval by the university.
Tom Vasich | EurekAlert!
The importance of biodiversity in forests could increase due to climate change
17.11.2017 | Deutsches Zentrum für integrative Biodiversitätsforschung (iDiv) Halle-Jena-Leipzig
Win-win strategies for climate and food security
02.10.2017 | International Institute for Applied Systems Analysis (IIASA)
The formation of stars in distant galaxies is still largely unexplored. For the first time, astron-omers at the University of Geneva have now been able to closely observe a star system six billion light-years away. In doing so, they are confirming earlier simulations made by the University of Zurich. One special effect is made possible by the multiple reflections of images that run through the cosmos like a snake.
Today, astronomers have a pretty accurate idea of how stars were formed in the recent cosmic past. But do these laws also apply to older galaxies? For around a...
Just because someone is smart and well-motivated doesn't mean he or she can learn the visual skills needed to excel at tasks like matching fingerprints, interpreting medical X-rays, keeping track of aircraft on radar displays or forensic face matching.
That is the implication of a new study which shows for the first time that there is a broad range of differences in people's visual ability and that these...
Computer Tomography (CT) is a standard procedure in hospitals, but so far, the technology has not been suitable for imaging extremely small objects. In PNAS, a team from the Technical University of Munich (TUM) describes a Nano-CT device that creates three-dimensional x-ray images at resolutions up to 100 nanometers. The first test application: Together with colleagues from the University of Kassel and Helmholtz-Zentrum Geesthacht the researchers analyzed the locomotory system of a velvet worm.
During a CT analysis, the object under investigation is x-rayed and a detector measures the respective amount of radiation absorbed from various angles....
The quantum world is fragile; error correction codes are needed to protect the information stored in a quantum object from the deteriorating effects of noise. Quantum physicists in Innsbruck have developed a protocol to pass quantum information between differently encoded building blocks of a future quantum computer, such as processors and memories. Scientists may use this protocol in the future to build a data bus for quantum computers. The researchers have published their work in the journal Nature Communications.
Future quantum computers will be able to solve problems where conventional computers fail today. We are still far away from any large-scale implementation,...
Pillared graphene would transfer heat better if the theoretical material had a few asymmetric junctions that caused wrinkles, according to Rice University...
15.11.2017 | Event News
15.11.2017 | Event News
30.10.2017 | Event News
17.11.2017 | Physics and Astronomy
17.11.2017 | Health and Medicine
17.11.2017 | Studies and Analyses