“It would be a complete transformation of how we think about disease,” Christos Proukakis at University College London told Alzforum. While these early findings remain to be replicated and extended to larger studies, some researchers in the field already foresee big implications if somatic mutation turn out to be a robust factor in brain disorders. Some late mutations may only be present in brain (right). Inherited APP duplications cause early onset AD, hinting that these somatic duplications might kick off amyloid pathology.ĭepending on when during development a somatic mutation occurs, it will affect different lineages of cells (left panel). In one recent study, prefrontal cortical neurons from sporadic Alzheimer’s patients contained an average of two extra copies of the APP gene. The picture for neurodegeneration is less clear, but a handful of papers are beginning to hint that mosaicism might play a role here, too. Though it is early days for this research, recent reports have made a case that somatic mosaic mutations may cause some instances of neurodevelopmental disease, such as epilepsy or malformation of the brain. Does this variation have consequences for normal function and disease? Until recently, this question was too difficult to address, but now, advances in genetic techniques allow researchers to spot small DNA variants within a given person. Several studies show that our brains in particular are patchworks, with DNA content varying widely from one neuron to the next.
Errors during replication and cell division can cause sequences to shift or pieces to expand or get lost.
#Gage mazaika code#
Our DNA makes us who we are, yet our genetic code is not the same from cell to cell.
0 kommentar(er)
