An international research teamdiscovered a gene mutation, which causes an early-onset, aggressive form of Alzheimer's. The study authors traced the DNA error through multiple members of a single family in Sweden. Brain scans of two siblings and a cousin with familial Alzheimer's disease showed the so-called Uppsala APP mutation. In addition, the manifestation of the disease recently identified by scientists occurs quite rarely.
Aggressive form of Alzheimer's disease caused by mutated genes discovered
This form of Alzheimer's disease is aggressive, rapid, and robs its victims of their most productive years along with their cognitive functions. According to the study authors, the condition can inevitably lead to dementia at a young age. Affected people are also in their early 40s when symptoms appear and suffer from a rapidly progressive course of the disease. The researchers found that the mutation accelerates harmful plaque formation known as amyloid beta, or more simply as Aβ. The sticky plaques destroy neurons, thereby impairing the executive functions of the brain itself. Neuroscientists define executive functions essentially as working memory, mental flexibility and self-control. The family story behind the genetic discovery began seven years ago in Sweden. Brain scans revealed evidence of atrophy in different regions of the brain. Furthermore, the results were not just poor, but in a range typically seen in cognitively impaired older adults. All were still in their early 40s at the time of the test.
Prior to the discovery of the gene mutation, researchers worldwide identified more than 50 other mutations in the APP gene. These are linked to early-stage Alzheimer's. APP mutations generally account for less than 10 percent of all early-onset cases. The Uppsala APP deletion is the first multi-amino acid mutation that leads to early onset Alzheimer's disease. Alzheimer's disease, whether sporadic or genetic, has no cure. If a cure is not found, the disease becomes, according to the authorsthis studyis expected to overwhelm global health systems by 2050 due to the unstoppable aging of the population.
