Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Researchers find genetic link to cerebral hemorrhage and porencephaly


Researchers at The Jackson Laboratory have discovered a genetic link to porencephaly, a rare but devastating neurological condition.

Their research, published in the May 19 issue of the journal Science, may have significant implications for preventing the disease in humans.

Usually exhibited in infants shortly after birth, symptoms of porencephaly include mental retardation, cerebral palsy or epilepsy. The brains of porencephaly patients show degenerative cavities and lesions. Researchers have suspected that the damage is the consequence of fetal trauma and/or genes affecting blood clotting that predispose to hemorrhage.

An international team discovered a genetic defect that weakens blood vessels in the brain, making an infant much more vulnerable to hemorrhaging. The team was led by Dr. Douglas Gould a postdoctoral fellow at The Jackson Laboratory and Jackson Laboratory Staff Scientist and Howard Hughes Medical Institute Investigator Dr. Simon W.M. John.

The researchers identified a mouse model of porencephaly. They found that the mice had a mutation in a collagen gene, COL4A1, which controls production of a basement membrane protein. As the name suggests, basement membranes provide foundations for a variety of tissues, including forming a strong sheath around blood vessels. The scientists concluded that the mutant collagen protein cannot be secreted into the basement membrane of the blood vessels causing them to be weakened. Instead, mutant collagen proteins accumulate within the cells lining the blood vessels possibly damaging them. The combination of cells with accumulated mutant protein and the weak basement membrane around blood vessels predisposes to hemorrhage.

To determine whether humans with porencephaly also have COL4A1 mutations, the researchers studied two families with a history of the disease and found the mutations. Control families had neither the mutation nor any history of porencephaly.

Since not all mice with the mutation develop porencephaly and the human disease is also variable, the researchers suggest that the weakened blood vessels in the brain could be damaged by stress on the head during birth, resulting in cerebral hemorrhage and subsequent porencephaly.

"Our finding could have important implications for disease prevention," said Dr. Gould. "For individuals who are at risk for vascular defects caused by mutations in COL4A1 genes, actions to reduce the stress on the weakened cerebral blood vessels could reduce the neurological damage. For example, Cesarean delivery of at-risk babies could increase the possibility of a healthy life," he concluded.

Joyce Peterson | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht International team discovers novel Alzheimer's disease risk gene among Icelanders
24.10.2016 | Baylor College of Medicine

nachricht New bacteria groups, and stunning diversity, discovered underground
24.10.2016 | DOE/Lawrence Berkeley National Laboratory

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

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...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

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...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

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...

Im Focus: New Products - Highlights of COMPAMED 2016

COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.

In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...

Im Focus: Ultra-thin ferroelectric material for next-generation electronics

'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.

Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

New method increases energy density in lithium batteries

24.10.2016 | Power and Electrical Engineering

International team discovers novel Alzheimer's disease risk gene among Icelanders

24.10.2016 | Life Sciences

New bacteria groups, and stunning diversity, discovered underground

24.10.2016 | Life Sciences

More VideoLinks >>>