Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Study on origin of mutation that causes Fatal Familiar Insomnia

08.01.2009
A PhD thesis at the University of the Basque Country (UPV/EHU) has studied the origin of the mutation that causes Fatal Familiar Insomnia (FFI). In the Autonomous Community of the Basque Country there is a high rate of carriers of this mutation — 50%of all the cases registered in the whole of Spain.

Fatal Familiar Insomnia (FFI) is one of the diseases considered as rare — there are less than 100 cases described throughout the world. FFI prevents the patient getting to sleep to the point where she or he cannot ever sleep and which, after a number of months thus, causes death. ILF is a genetic illness caused by the D178N mutation and belonging to the group of diseases known as Transmissible Spongiform Encefalopathies (TSE).

The author of the PhD is Ms Ana Belén Rodríguez Martínez, who presented her thesis with the title, Fatal Familiar Insomnia in the Basque Country: the search for the founding effect of mutation D178N (-129M) and the effects of oxidative stress on retrospective samples. Ms Rodríguez has a degree in Biology and currently works as an associate researcher on a Neiker-Tecnalia project. She carried out her research thesis under the direction of Dr. Marian Martínez de Pancorbo, Profesor of Cell Biology at the UPV/EHU Pharmacy Faculty and of Dr. Juan José Zarranz, Head of Neurology at Cruces Hospital and Professor of Neurology in the Faculty of Medicine and Odontology at the UPV/EHU.

The undertaking of this PhD thesis has been possible thanks to the collaboration by and participation of health researchers and professionals from various spheres, both national and international (The bodies and institutions referred to are detailed at the end of the paper).

Origin of the mutation

In 1996, following on from the outbreak of the Creutzfeldt-Jakob (“mad cow”) disease, the European Union launched systems for monitoring the prionic group of illnesses — the group to which FFI belongs. It was only then that the high rate of carriers of the mutation (D178N) responsible for FFI was detected in the Basque Country Autonomous Community (with 50% of all cases registered in Spain).

The area is characterised by its mountainous orography, and which has favoured cultural and genetic isolation. These features caused researchers to think that there might be a ‘founder effect’ of the mutation in the Basque Country — ‘founder effect’ is when a new population of individuals is formed from a very small number, with a large proportion thereof carrying the same genetic characteristics.

Given this situation, three targets were set: to look for the possible founder effect of the D178N mutation amongst patients in the Basque Country; establish relations between carriers in the Basque Country with other cases in Spain and Europe; and fix the historical time of the most recent common ancestor.

Same genetic families

After studying cases of FFI in the Basque Country, the researcher observed that genetic families amongst the patients coincided with each other. She concluded, thus, that the high rate of the disorder is due to a ‘founder effect’ of the mutation in this geographical area. Moreover, genealogical data link most of the cases and fix the oldest mutation carrier generations in an area in the south of the Basque Country in the XVII and XVIII centuries.

In comparison with other regions, Dr. Rodríguez concluded that links can be established between cases in Germany and those of the Italian Veneto region, on the one hand; between Italians of Tuscany and some Spanish cases, on the other; and that not all Spanish cases have the same origin. On estimating the age of the most recent common ancestor, they were able to calculate that two of these variants of the mutation arose over 2,000 years ago.

Bodies and institutions collaborating:

The Autonomous Community of the Basque Country (CAPV)
- Epidemiological Monitoring System of the CAPV.
- Neurology Service and the Pathological Anatomy Service at Txagorritxu Hospital in Araba.
- Neurology Service, Santiago Hospital, Araba.
- Neurology Service, Cruces Hospital, Bizkaia.
- Neurology Service, Basurto Hospital, Bizkaia.
State (Spain)
- Carlos III Health Institute, Madrid.
- Immunology Service of the Creutzfeldt-Jakob Disease Biodiagnostic Unit at the Unit for Alzheimer Disease and Other Cognitive Disorders of the Hospital Clinic (Barcelona).
International
- Victor Segalen University, Bordeaux 2, France.
- National TSE Reference Centre, Göttingen, Germany.
- Department of Neurological Sciences, Bologna University, Italy.

Lucía Álvarez | alfa
Further information:
http://www.elhuyar.com
http://www.basqueresearch.com/berria_irakurri.asp?Berri_Kod=2013&hizk=I

More articles from Life Sciences:

nachricht Link Discovered between Immune System, Brain Structure and Memory
26.04.2017 | Universität Basel

nachricht Researchers develop eco-friendly, 4-in-1 catalyst
25.04.2017 | Brown University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Making lightweight construction suitable for series production

More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.

Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...

Im Focus: Wonder material? Novel nanotube structure strengthens thin films for flexible electronics

Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.

"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...

Im Focus: Deep inside Galaxy M87

The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.

Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...

Im Focus: A Quantum Low Pass for Photons

Physicists in Garching observe novel quantum effect that limits the number of emitted photons.

The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...

Im Focus: Microprocessors based on a layer of just three atoms

Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.

Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Expert meeting “Health Business Connect” will connect international medical technology companies

20.04.2017 | Event News

Wenn der Computer das Gehirn austrickst

18.04.2017 | Event News

7th International Conference on Crystalline Silicon Photovoltaics in Freiburg on April 3-5, 2017

03.04.2017 | Event News

 
Latest News

From volcano's slope, NASA instrument looks sky high and to the future

27.04.2017 | Earth Sciences

Control of molecular motion by metal-plated 3-D printed plastic pieces

27.04.2017 | Materials Sciences

Move over, Superman! NIST method sees through concrete to detect early-stage corrosion

27.04.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>