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!
Diagnoses: When Are Several Opinions Better Than One?
19.07.2016 | Max-Planck-Institut für Bildungsforschung
High in calories and low in nutrients when adolescents share pictures of food online
07.04.2016 | University of Gothenburg
Ultrafast lasers have introduced new possibilities in engraving ultrafine structures, and scientists are now also investigating how to use them to etch microstructures into thin glass. There are possible applications in analytics (lab on a chip) and especially in electronics and the consumer sector, where great interest has been shown.
This new method was born of a surprising phenomenon: irradiating glass in a particular way with an ultrafast laser has the effect of making the glass up to a...
Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion
Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...
Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.
"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...
In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.
A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...
By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.
"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...
14.10.2016 | Event News
14.10.2016 | Event News
12.10.2016 | Event News
25.10.2016 | Earth Sciences
25.10.2016 | Power and Electrical Engineering
25.10.2016 | Process Engineering