Mutations in CNNM2 membrane proteins were identified to be causative for hypomagnesemia, intellectual disability and seizures. CNNM2 mutations among the most common genetic causes for rare dominant hypomagnesemia. Currently, there are no clinical protocols for the diagnosis and follow-up of patients with CNNM2 mutations. Although it has been described that CNNM2 mutations impair renal magnesium reabsorption, the mechanisms that explain the disease are poorly understood.
Improving diagnostics and treatment can only be reached by systematic phenotyping of all known patients and by better understanding of the function of the CNNM2 protein. Based on our previous and preliminary data, we hypothesize that the function of CNNM2 is dependent on its interaction partners. Elucidation of the structure, regulation and function of the full CNNM2-complex will therefore aid to understand the pathogenesis of CNNM2 disease.
In this project, we aim to improve the understanding of CNNM2-associated disease by integrated structural, functional and biochemical techniques. The project is part of the large interdisciplinary FIGHT-CNNM2 research consortium. The postdoctoral fellow will work in close collaboration with research partners from Spain, Germany and Canada, the European Reference Network ERKNet and the patient association HIPOFAM. Altogether this innovative and international multidisciplinary network combines expertise in biochemistry, molecular and cell biology, genetics, structural biology, bioinformatics and patient care.
Tasks and responsibilities
- Design and perform scientific research in the area of molecular biology, biochemistry and physiology.
- Generates and analyses the data in order to contribute to scientific publications and presents findings at scientific meetings.
- Works in a team with other students and scientists to discuss, plans and performs research in a stimulating environment.