Mosaic neuronal aneuploidy in Alzheimer's disease - a potential genetic basis for selective neuronal vulnerability in neurodegeneration
Understanding the molecular principles of complex human diseases of the nervous system remains a basic challange to neuroscience. Structural variation in the human genome is likely to be one important mechanism for neuronal diversity and brain diseases.
A combination of multiple different forms of neuronal aneuploidy due to a mosaic loss or gain of whole chromosome (mosaic aneuploidy) or fragments thereof giving rise to cellular diversity at the genomic level have been described in neurons of the normal and diseased adult human brain, although more systematic studies are still lacking. The aim of the present project is to analyze the prevalence and regional distribution of neuronal aneuploidy both in the normal human brain and in Alzheimer´s disease. With this study, we will contribute to the understanding of the genetic background of Alzheimer´s disease as one of the fastest growing areas of unmet medical need.
Workgroup
Funding
Fritz Thyssen Foundation (until 2016)