Forum für Wissenschaft, Industrie und Wirtschaft

Hauptsponsoren:     3M 
Datenbankrecherche:

 

Gene variants found to affect human lifespan

05.02.2013
CHOP researchers compared young to old populations, identified CNVs conferring long-term risk or protection

By broadly comparing the DNA of children to that of elderly people, gene researchers have identified gene variants that influence lifespan, either by raising disease risk or by providing protection from disease.

"This research is the first genome-wide, population-based study of copy number variations in children associated with human longevity," said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia.

The study appeared Jan. 30 in the open-access journal PLOS ONE.

Copy number variations (CNVs) are losses or gains in DNA sequence that are usually rare, but which often play an important role in raising or lowering the risk of disease.

The study team compared the rates of CNVs in a sample of 7,313 young subjects, 18 years old and below, from the Children's Hospital network, to a group of 2,701 Icelandic subjects, 67 years old or above, recruited by the Icelandic Heart Association. The researchers used microchip arrays to perform the whole-genome CNV analyses.

"Our assumption was that CNVs appearing in children but not in the elderly were more likely to be disease-causing, while CNVs that were proportionately higher in older people were more likely to be protective, allowing them to live longer," said Hakonarson.

After performing a replication study in an independent U.S. cohort of 2,079 children and 4,692 older people and making statistical adjustments to address population stratification, the study team found seven significant CNVs. Three of the CNVs were deletions of DNA sequence, while four were duplications.

The genes impacted by the CNVs were disproportionately involved in alternative splicing. This is an important biological mechanism in which, instead of one gene simply expressing one protein, modifications to messenger RNA result in different protein products based on the same underlying DNA code in a given gene.

"Our results suggest that CNVs and other genetic variants may exert their effects through gene networks and pathways that regulate biological functions through mechanisms such as alternative splicing," said Hakonarson. "Possibly in a more global way than previously thought, some of these CNVs may have favorable effects, whereas others are bad for you and predispose you to diseases."

Although much work remains to be done, he added that the CNVs overrepresented in children may represent novel targets implicated in short lifespan. Eventually, added Hakonarson, if such CNVs are incorporated into early clinical screening tests, their presence could be prognostic markers indicating which patients should take individualized preventive health measures.

An Institutional Development Award from The Children's Hospital of Philadelphia supported this research, along with the Cotswold Foundation. Other funding sources for databases used in this study included the National Institutes of Health and the Icelandic Heart Association.

"Copy Number Variations in Alternative Splicing Gene Networks Impact Lifespan," PLOS ONE, published online Jan. 30, 2013. http://dx.doi.org/10.1371/journal.pone.0053846

About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 516-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu

John Ascenzi | EurekAlert!
Further information:
http://www.chop.edu

More articles from Life Sciences:

nachricht New Technique Maps Elusive Chemical Markers on Proteins
03.07.2015 | Salk Institute for Biological Studies

nachricht New approach to targeted cancer therapy
03.07.2015 | CECAD - Cluster of Excellence at the University of Cologne

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Forschungsschiff Heincke seit 25 Jahren im Dienst der Wissenschaft

Ein Vierteljahrhundert alt, über 900.000 Kilometer (488.842 nautische Meilen) gefahren und trotzdem auf dem neuesten wissenschaftlichen und technischen Stand: Die Indienststellung des Forschungsschiffes Heincke jährt sich am 8. Juli 2015 zum 25. Mal.

Wissenschaftler des Alfred-Wegener-Instituts, Helmholtz-Zentrum für Polar- und Meeresforschung (AWI), das die Heincke betreibt, nehmen ebenso regelmäßig an...

Im Focus: Solardächer produzieren Strom für Fahrzeuge

Studentische Industriekooperation zwischen HAW Hamburg und Webasto erarbeitet Ergebnisse für EU-Zertifizierungsprozess von Solardächern zur Verbesserung der Öko-Bilanz von Fahrzeugen.

Unter der Leitung von Dr.-Ing. Volker Skwarek, Professor für technische Informatik an der HAW Hamburg, erarbeiteten sechs Studierende des...

Im Focus: Viaducts with wind turbines, the new renewable energy source

Wind turbines could be installed under some of the biggest bridges on the road network to produce electricity. So it is confirmed by calculations carried out by a European researchers team, that have taken a viaduct in the Canary Islands as a reference. This concept could be applied in heavily built-up territories or natural areas with new constructions limitations.

The Juncal Viaduct, in Gran Canaria, has served as a reference for Spanish and British researchers to verify that the wind blowing between the pillars on this...

Im Focus: Aus alt mach neu - Rohstoffquelle Elektroschrott

Der Markt für Unterhaltungselektronik boomt: Rund 60 Millionen Fernsehgeräte wurden im letzten Jahr in Europa verkauft. Früher oder später werden sie zurückkehren – als Elektroschrott.

Die Recycling-Industrie hat darauf reagiert: Kupfer, Aluminium, Eisen- und Edelmetalle sowie ausgewählte Kunststoffe werden bereits wiederverwertet. Allerdings...

Im Focus: Radar schützt vor Weltraummüll

Die Bedrohung im All durch Weltraummüll ist groß. Aktive Satelliten und Raumfahrzeuge können beschädigt oder zerstört werden. Ein neues, nationales Weltraumüberwachungssystem soll ab 2018 vor Gefahren im Orbit schützen. Fraunhofer-Forscher entwickeln das Radar im Auftrag des DLR Raumfahrtmanagement.

Die »Verkehrssituation« im All ist angespannt: Neben unzähligen Satelliten umkreisen Weltraumtrümmer wie beispielsweise ausgebrannte Raketenstufen und...

Alle Focus-News des Innovations-reports >>>

Anzeige

Anzeige

IHR
JOB & KARRIERE
SERVICE
im innovations-report
in Kooperation mit academics
Veranstaltungen

Flurförderzeuge im Zeichen der Zeit

03.07.2015 | Veranstaltungen

Aktuelles aus Forschung und Betrieb: 27. Deutscher Flammentag

02.07.2015 | Veranstaltungen

Call for ideas: Gute Ideen für bessere Städte

02.07.2015 | Veranstaltungen

 
B2B-VideoLinks
Weitere VideoLinks >>>
Aktuelle Beiträge

Siemens erhält Auftrag für Offshore-Windkraftwerk in Großbritannien

03.07.2015 | Unternehmensmeldung

Flurförderzeuge im Zeichen der Zeit

03.07.2015 | Veranstaltungsnachrichten

Kompakter Time Converter für zuverlässigen Einsatz in rauen Umgebungen

03.07.2015 | Energie und Elektrotechnik