Tauopathy

Tauopathy is a group of brain disorders characterized by the accumulation of an abnormal form of the protein tau in the neurons of the central nervous system. These diseases can manifest themselves in a variety of forms, including Pick's disease, progressive supranuclear palsy, CBD, and familial frontotemporal dementia. The accumulation of these proteins has been linked to axonal and dendritic degeneration as well as to synaptic loss. While the exact mechanism of tau accumulation is still unclear, a variety of genetic mutations and environmental exposures have been implicated in its accumulation and, therefore, in the development of tauopathy. In tauopathies, pathologic tau aggregates, known as neurofibrillary tangles (NFTs), are the primary structure responsible for the degeneration of neuronal structures. NFTs can form in any area of the central nervous system, but are most commonly observed in the hippocampus and other regions of the temporal lobe. While other proteins, such as amyloid beta (Abeta) in Alzheimer's disease, can play a role in neurodegeneration in certain tauopathies, it appears that the presence of the abnormal tau proteins is mainly responsible for neuronal dysfunction. The formation of NFTs is believed to be driven by mutations in the tau gene point mutations in the MAPT gene can induce alternative splicing of the tau protein, resulting in an abnormal tau subtype with increased propensity to polymerize and form NFTs. Additionally, other genetic mutations in the MAPT gene, such as duplication and triplication, have been linked to an increased risk of developing tauopathy. Environmental factors, such as exposure to high levels of metal ions, such as aluminum, have been suggested to play a role in the accumulation of pathologic tau proteins.