Forum für Wissenschaft, Industrie und Wirtschaft

Hauptsponsoren:     3M 


Gene variants found to affect human lifespan

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.

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

John Ascenzi | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht Two decades of training students and experts in tracking infectious disease
27.11.2015 | Hochschule für Angewandte Wissenschaften Hamburg

nachricht Increased carbon dioxide enhances plankton growth, opposite of what was expected
27.11.2015 | Bigelow Laboratory for Ocean Sciences

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Tübinger Forscher entdecken neue Zelltypen im Gehirn

Untersuchung im Neocortex von Mäusen - Zusammenarbeit mit Wissenschaftlern aus Houston

Wissenschaftler aus Tübingen und Houston haben zahlreiche neue Zelltypen im Gehirn identifiziert. Im Neocortex von erwachsenen Mäusen führten sie erstmals eine...

Im Focus: Klimawandel: Forscher weisen dramatische Veränderung in den 1980er Jahren nach

Ende der 1980er Jahre erlebte die Erde eine dramatische Klimaveränderung. Sie umfasste die Tiefen der Ozeane ebenso wie die obere Atmosphäre und reichte vom Nord- bis zum Südpol. Ausgelöst durch den Ausbruch des Vulkans El Chichón in Mexico 1982 und verstärkt durch menschliches Handeln folgte daraus die größte Temperaturverschiebung der letzten 1.000 Jahre. Erstmals nachgewiesen hat dies ein internationales Forscherteam um Prof. Philip C. Reid von der Plymouth University und der Sir Alister Hardy Foundation for Ocean Science (UK). Die Ergebnisse wurden kürzlich in der Fachzeitschrift „Global Change Biology“ veröffentlicht.

Abrupte Klimaveränderungen haben oft dramatische Folgen für unseren Planeten. Dennoch sind sie in ihrer Art, ihrem Ausmaß und in ihrer Wirkungsweise meist nur...

Im Focus: Climate study finds evidence of global shift in the 1980s

Planet Earth experienced a global climate shift in the late 1980s on an unprecedented scale, fuelled by anthropogenic warming and a volcanic eruption, according to new research published this week.

Scientists say that a major step change, or ‘regime shift’, in the Earth’s biophysical systems, from the upper atmosphere to the depths of the ocean and from...

Im Focus: Innovative Photovoltaik – vom Labor an die Fassade

Fraunhofer ISE demonstriert neue Zell- und Modultechnologien an der Außenfassade eines Laborgebäudes

Das Fraunhofer-Institut für Solare Energiesysteme ISE hat die Außenfassade eines seiner Laborgebäude mit 70 Photovoltaik-Modulen ausgerüstet. Die Module...

Im Focus: Innovative Photovoltaics – from the Lab to the Façade

Fraunhofer ISE Demonstrates New Cell and Module Technologies on its Outer Building Façade

The Fraunhofer Institute for Solar Energy Systems ISE has installed 70 photovoltaic modules on the outer façade of one of its lab buildings. The modules were...

Alle Focus-News des Innovations-reports >>>



im innovations-report
in Kooperation mit academics

Bürger treffen Experten: Gespräch zu Chancen und Risiken der Nanotechnologie am 30.11.2015

27.11.2015 | Veranstaltungen

Arbeit in Sozialen Dienstleistungen - Welche Zukunft hat die Branche?

27.11.2015 | Veranstaltungen

Konzepte nutzergerechter Fahrerarbeitsplatzgestaltung

26.11.2015 | Veranstaltungen

Weitere VideoLinks >>>
Aktuelle Beiträge

Künstliche Herzklappe nach dem Vorbild der Natur

27.11.2015 | Förderungen Preise

Siemens liefert 126 Megawatt Onshore-Windleistung nach Schottland

27.11.2015 | Unternehmensmeldung

Hauptkläranlage Wien wird mit Siemens zum Ökokraftwerk

27.11.2015 | Energie und Elektrotechnik