Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene for common form of Parkinson’s pinpointed

25.10.2004


Researchers have identified a new gene that causes a common form of inherited Parkinson’s disease (PD) and whose understanding they believe "will impact not only patients and their families but will open novel avenues of research aimed at identifying and ultimately halting the molecular events that lead to PD."



The international research team reported finding the gene in a mutant form in five families from Spain and the United Kingdom. They have named the protein "dardarin" after the Basque word for tremor. The researchers, led by Jordi Pérez-Tur, Nick Wood, and Andrew Singleton, were seeking to pinpoint the gene that caused a form of PD called PARK8, which was first reported in 2002. Their search was spurred by the knowledge that earlier discoveries of other genetic mutations underlying rare forms of PD had yielded insight into PD and aided design and testing of drug treatments.

Until their studies, it was only known that PARK8 was caused by a mutation in a gene somewhere along a chromosomal region, or locus, that contained about 116 genes. The researchers had identified four families from the Basque region of Spain and one from the United Kingdom that showed evidence of having PARK8 PD. Their systematic analyses of the PARK8 locus led them to track down mutations that all had in the gene encoding dardarin.


Evidence implicating dardarin includes the fact that it is expressed throughout the brain and that the characteristic mutations in dardarin are not present in more than 1400 corresponding chromosomes from people without PD. One of the characteristic mutations was also identified in 8% of 137 apparently unrelated Basque people with PD. According to the researchers, that figure suggests that this mutation that underlies PARK8 PD is a relatively common cause of the disease in the Basque population.

Also, within the families they studied, people with PD were found to carry the mutation in dardarin, while those who were unaffected did not. Although the function of dardarin is not known, they said, it has the characteristics of a molecular switch called a kinase. Such enzymatic switches activate other protein enzymes by attaching a phosphate to them -- called phosphorylation. "Because phosphorylation of proteins has been implicated in the pathogenesis of neurodegenerative disease, it is particularly tempting to hypothesize a role for dardarin in the phosphorylation of proteins central to PD..." wrote the researchers.

Coro Paisán-Ruíz, Shushant Jain, E. Whitney Evans, William P. Gilks, Javier Simón, Marcel van der Brug, Adolfo López de Munain, Silvia Aparicio, Angel Martínez Gil, Naheed Khan, Janel Johnson, Javier Ruiz Martinez, David Nicholl, Itxaso Marti Carrera, Amets Saénz Pena, Rohan de Silva, Andrew Lees, José Félix Martí-Massó, Jordi Pérez-Tur, Nick W. Wood, and Andrew B. Singleton: "Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson’s Disease"

The other members of the research team include Coro Paisán-Ru?z, Javier Simón, Sivia Aparicio, and Jordi Pérez-Tur from the Institut de Biomedicina de València-CSIC; Nick W Wood and Shushant Jain from the Institute of Neurology in London; Shushant Jain, William P Gilks, Naheed Khan, Rohan de Silva, and Andrew Lees from the Reta Lila Weston Institute of Neurological Studies; E Whitney Evans, Marcel van der Brug, Janel Johnson, and Andrew B Singleton from the National Institute on Aging; Adolfo López de Munain, Itxaso Marti Carrera, Amets Saenz Pena, and José Félix Martí-Massó from the Hospital Donostia; Angel Martínez Gil from the Hospital Ntra. Sra. de la Antigua; Javier Ruiz Martinez from the Hospital de Mendaro; and David Nicholl from the Queen Elizabeth Hospital.

Heidi Hardman | EurekAlert!
Further information:
http://www.cell.com

More articles from Life Sciences:

nachricht Complete skin regeneration system of fish unraveled
24.04.2018 | Tokyo Institute of Technology

nachricht Scientists generate an atlas of the human genome using stem cells
24.04.2018 | The Hebrew University of Jerusalem

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: BAM@Hannover Messe: innovative 3D printing method for space flight

At the Hannover Messe 2018, the Bundesanstalt für Materialforschung und-prüfung (BAM) will show how, in the future, astronauts could produce their own tools or spare parts in zero gravity using 3D printing. This will reduce, weight and transport costs for space missions. Visitors can experience the innovative additive manufacturing process live at the fair.

Powder-based additive manufacturing in zero gravity is the name of the project in which a component is produced by applying metallic powder layers and then...

Im Focus: Molecules Brilliantly Illuminated

Physicists at the Laboratory for Attosecond Physics, which is jointly run by Ludwig-Maximilians-Universität and the Max Planck Institute of Quantum Optics, have developed a high-power laser system that generates ultrashort pulses of light covering a large share of the mid-infrared spectrum. The researchers envisage a wide range of applications for the technology – in the early diagnosis of cancer, for instance.

Molecules are the building blocks of life. Like all other organisms, we are made of them. They control our biorhythm, and they can also reflect our state of...

Im Focus: Spider silk key to new bone-fixing composite

University of Connecticut researchers have created a biodegradable composite made of silk fibers that can be used to repair broken load-bearing bones without the complications sometimes presented by other materials.

Repairing major load-bearing bones such as those in the leg can be a long and uncomfortable process.

Im Focus: Writing and deleting magnets with lasers

Study published in the journal ACS Applied Materials & Interfaces is the outcome of an international effort that included teams from Dresden and Berlin in Germany, and the US.

Scientists at the Helmholtz-Zentrum Dresden-Rossendorf (HZDR) together with colleagues from the Helmholtz-Zentrum Berlin (HZB) and the University of Virginia...

Im Focus: Gamma-ray flashes from plasma filaments

Novel highly efficient and brilliant gamma-ray source: Based on model calculations, physicists of the Max PIanck Institute for Nuclear Physics in Heidelberg propose a novel method for an efficient high-brilliance gamma-ray source. A giant collimated gamma-ray pulse is generated from the interaction of a dense ultra-relativistic electron beam with a thin solid conductor. Energetic gamma-rays are copiously produced as the electron beam splits into filaments while propagating across the conductor. The resulting gamma-ray energy and flux enable novel experiments in nuclear and fundamental physics.

The typical wavelength of light interacting with an object of the microcosm scales with the size of this object. For atoms, this ranges from visible light to...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

IWOLIA: A conference bringing together German Industrie 4.0 and French Industrie du Futur

09.04.2018 | Event News

 
Latest News

Quantum Technology for Advanced Imaging – QUILT

24.04.2018 | Information Technology

AWI researchers measure a record concentration of microplastic in arctic sea ice

24.04.2018 | Earth Sciences

Complete skin regeneration system of fish unraveled

24.04.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>