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 Ion treatments for cardiac arrhythmia — Non-invasive alternative to catheter-based surgery
20.01.2017 | GSI Helmholtzzentrum für Schwerionenforschung GmbH

nachricht Seeking structure with metagenome sequences
20.01.2017 | DOE/Joint Genome Institute

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Traffic jam in empty space

New success for Konstanz physicists in studying the quantum vacuum

An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...

Im Focus: How gut bacteria can make us ill

HZI researchers decipher infection mechanisms of Yersinia and immune responses of the host

Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...

Im Focus: Interfacial Superconductivity: Magnetic and superconducting order revealed simultaneously

Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.

While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...

Im Focus: Studying fundamental particles in materials

Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales

Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...

Im Focus: Designing Architecture with Solar Building Envelopes

Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.

As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Sustainable Water use in Agriculture in Eastern Europe and Central Asia

19.01.2017 | Event News

12V, 48V, high-voltage – trends in E/E automotive architecture

10.01.2017 | Event News

2nd Conference on Non-Textual Information on 10 and 11 May 2017 in Hannover

09.01.2017 | Event News

 
Latest News

Helmholtz International Fellow Award for Sarah Amalia Teichmann

20.01.2017 | Awards Funding

An innovative high-performance material: biofibers made from green lacewing silk

20.01.2017 | Materials Sciences

Ion treatments for cardiac arrhythmia — Non-invasive alternative to catheter-based surgery

20.01.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>