Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers find genetic link to cerebral hemorrhage and porencephaly

20.05.2005


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:
http://www.jax.org

More articles from Life Sciences:

nachricht A Map of the Cell’s Power Station
18.08.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau

nachricht On the way to developing a new active ingredient against chronic infections
18.08.2017 | Deutsches Zentrum für Infektionsforschung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

A Map of the Cell’s Power Station

18.08.2017 | Life Sciences

Engineering team images tiny quasicrystals as they form

18.08.2017 | Physics and Astronomy

Researchers printed graphene-like materials with inkjet

18.08.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>