Molecular Epidemiology and Evolution Research Programme

RESEARCH CONSORTIUM "NORTHERN MITOCHONDRIA"

Project title:

MOLECULAR EPIDEMIOLOGY OF MITOCHONDRIAL ENCEPHALOMYOPATHIES

Project summary:

The aim of the research consortium
Mutations in mitochondrial DNA lead to a clinically variable group of disorders that are characterized by disturbances in cellular energy metabolism and structural disturbances of the mitochondria. The aim of the research consortium "Northern Mitochondria" is to study the molecular etiology, molecular epidemiology, and biochemical and clinical pathophysiology of these disorders. In the genetic epidemiology part of the project we have created well-defined, population-based patient cohorts and we have collected ca. 1500 DNA samples from specific patient groups and ca. 300 DNA samples from population controls.

In this project we carry out

  1. molecular research on mitochondrial DNA in order to identify disease-causing mutations and polymorphisms that increase disease susceptibility,
  2. biochemical research on mitochondrial respiratory chain and morphological studies on cultured cells in order to detect the consequences of those mutations,
  3. clinical research in order to evaluate the clinical pathophysiology of the mutations.

The organization of the research consortium
The researchers at the Departments of Neurology and Medical Biochemistry are responsible for the studies done in the field of molecular biology and biochemistry. The clinical research is carried out by researchers at the Departments of Neurology and Pediatrics. The consortium leader coordinates the clinical and epidemiological research that is carried out in collaboration with experts of various other disciplines. Furthermore, we have collaboration with other centers in Finland and abroad.

Consortium leader:

Kari Majamaa, MD
University of Oulu
Department of Neurology
Kajaanintie 52A
90220 Oulu
E-mail kari.majamaa@oulu.fi

Project leaders:

Ilmo Hassinen, professor
University of Oulu
Department of Medical Biochemistry
Kajaanintie 52A
90220 Oulu

Heikki Rantala, MD
University Hospital of Oulu
Department of Pediatrics
Kajaanintie 50
90220 Oulu

See also:

http://www.oulu.fi/medbioch/karim.html

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