'THERE IS NO EVIDENCE THAT THE RISK OF A DE NOVO CNV IS RELATED TO THE AGE OF EITHER PARENT"

~ARTHUR L. BEAUDET

THIS IS INTRIGUING, IS THERE EVIDENCE THAT DE NOVO CNVs ARE NOT RELATED TO AGE?
Scientists are not sure why the copy variations emerge, but it probably has something to do with the shuffling of genetic material that occurs in the production of eggs and sperm; the process is prone to errors.

"De novo point mutations in such genes could explain the advanced paternal age association that has been reported for autism13. There is no evidence, however, that the risk of a de novo CNV is related to the age of either parent."




There are several CNVs are associated with 17 conditions of the nervous system including Parkinsons and Alzheimer's disease. Sebat and Wigler et al. have found them in sporadic autism. Also there are CNVs involved in the genes that are involved with the immune system and in human evolution.

CNVs PROBABLY HAVE TO DO WITH IN THE SHUFFLING OF GENETIC MATERIAL THAT OCCURS IN THE PRODUCTION OF EGGS AND SPERM

The new understanding will change the way in which scientists search for genes involved in disease.

"Many examples of diseases resulting from changes in copy number are emerging," commented Charles Lee, one of the project's leaders from Brigham and Women's Hospital and Harvard Medical School in Boston, US.


"A recent review lists 17 conditions of the nervous system alone - including Parkinson's disease and Alzheimer's disease - that can result from such copy number changes."
Scientists are not sure why the copy variations emerge, but it probably has something to do with the shuffling of genetic material that occurs in the production of eggs and sperm; the process is prone to errors. As well as aiding the investigation of disease and the development of new drugs, the research will also inform the study of human evolution, which probes genetic variation in modern populations for what it can say about their relationship to ancestral peoples.