|Place of birth||Landsberg am Lech|
|Date of birth||28th October 1983|
|since 09/2010||Graduate programme “Neurodegenerative Disease Research“ (SFB 596), LMU Munich, PhD studies in the group of Prof. Dr. Christian Haass and Dr. Anja Capell, Adolf-Butenandt Institute and DZNE, Munich|
|10/2009 - 05/2010||Master thesis in the group of PD Birgit Luber, Institute of Molecular Pathology, Technische Universität München|
|02/2009 - 07/2009||Semester abroad at the Victoria University of Wellington, New Zealand; DAAD scholarship and TUM scholarship|
|10/2007 - 05/2010||Studies of Molecular Biotechnology, Technische Universität München; Degree: Master of Science (grade: 1.2)|
|08/2008 - 02/2009||Voluntary Placement at Roche Diagnostics GmbH, Penzberg|
|10/2004 - 09/2007||Studies of Molecular Biotechnology, Technische Universität München; Degree: Bachelor of Science (grade: 1.5)|
Frontotemporal dementia associated risk factors
Frontotemporal lobar degeneration (FTLD) is the second most common cause of dementia in people under the age of 65 years.
FTLD-TDP, the largest subgroup of FTLD, is characterized by ubiquitin-immunoreactive neuronal cytoplasmic or nuclear inclusions containing TAR DNA-binding protein-43 (TDP-43) as their main component. In 2006, mutations in the progranulin (GRN) gene were found to be causative for autosomal dominant FTLD-TDP. Progranulin, an ubiquitously expressed, secreted precursor protein is involved in embryonic development, wound repair, tumour growth and inflammation and discussed as a neurotrophic factor. Interestingly, all known GRN mutations are loss-of-function mutations leading to haploinsufficiency. Therefore, a possible therapeutic approach would be to increase GRN expression in FTLD patients carrying GRN mutations.
Very recently, 7p21, encoding the uncharacterized transmembrane protein TMEM106B, was detected to be a common genetic susceptibility locus for FTLD-TDP. A potential disease mechanism was suggested in which risk-associated polymorphisms at 7p21 increase TMEM106B expression which in turn increases the risk for FTLD-TDP. Furthermore, TMEM106B seems to be an important risk factor even in GRN mutation carriers implying that GRN mutations operate upstream of TMEM106B in a pathogenic cascade. However, the exact mechanism which leads to FTLD-TDP and the relationship between GRN and TMEM106B are still unknown.
In my PhD thesis, I will investigate if TMEM106B has any influence on GRN expression and therefore might it be responsible for a varying age of onset in patients with exactly the same GRN mutation. Furthermore, I will evaluate if there are any drugs which increase GRN levels in order to rescue the haploinsufficiency phenotype in FTLD-TDP patients carrying a GRN mutation.