Study on origin of mutation that causes fatal familia...( This release is available in A PhD t...)

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 Beln Rodrguez Martnez, 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 Rodrguez 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 Martnez de Pancorbo, Profesor of Cell Biology at the UPV/EHU Pharmacy Faculty and of Dr. Juan Jos 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")
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