Genomic and chromosomal pathology in the human brain: underlying causes and functional consequences

Abstract

Genomic and chromosomal pathology may be a mechanism for neurological and psychiatric diseases. Molecular cytogenetic studies of postmortal samples of the central nervous system have shown that genome/chromosome instability and somatic mosaicism are an element of pathogenic cascade in Alzheimer’s disease, ataxia telangiectasia, autism and schizophrenia. Using cytogenomic analysis and bioinformatics methods possible causes and functional consequences of genomic and chromosomal pathology in the diseased brain have been addressed.