Common genetic determinants of iron metabolism and restless legs syndrome (RLS)

• Applicant: Professorin Dr. Juliane Winkelmann
• Subject Area: Molecular Biology and Physiology of Neurons and Glial Cells
• Term: from 2009 to 2013
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 153581205

Dysregulation of iron homeostasis and iron distribution is associated with a variety of neurological and hematological disorders. Decreased iron in the brain is found in patients with restless legs syndrome (RLS), for instance, while neurodegenerative disorders such as Parkinson’s disease are associated with iron accumulation in certain brain regions. Up to date, not all genetic determinants of iron metabolism have been identified and the knowledge on the molecular regulation is still incomplete.Technical advances using oligonucleotide arrays allow to determine the entire set of common single base pair variation in the human genome. These datasets provide powerful means to identify correlations between genes and phenotypic parameters. In this study we will measure iron-related parameters (Fe, ferritin, transferrin, soluble transferrin receptor, ceruloplasmin) in individuals of the population-based KORA study and compare these values to an already existing genome-wide genotype data set. Genetic associations identified by genome-wide association studies (GWAs) on iron parameters will provide insight in the genetics and (patho-) physiology of the iron metabolism. Furthermore, it will improve the understanding of iron-related traits and, specifically, of the iron-related susceptibility to RLS. As it may reveal new entry points for therapeutic intervention, this understanding may be crucial for advancements in the treatment of iron-related disorders.

• DFG Programme: Research Grants
• Participating Persons: Professor Dr. Thomas Meitinger; Professor Dr. Konrad Oexle