Some genetic diseases caused by an abnormal repeat in the DNA are known to become more severe with each new generation - this dreadful trait is called anticipation. Now a study by Portuguese researchers from Porto University has proved, for the first time, the existence of anticipation in diseases caused by a different type of errors that not a DNA repeat, in this case the fatal neurodegenerative disorder Familial Amyloid Polyneuropathy (FAP). The discovery has two major implications: first it opens the door to the possibility that many more diseases could show anticipation, including Alzheimer’s and cancer, like some already suggested but was later dismissed as experimental error. Second, and not less important, Carolina Lemos, Alda Sousa and colleagues’ discovery that FAP – a fatal incurable disease - becomes worse from generation to generation might seem bad news, but in fact it has a very positive side. Not only it suggests that if we now can unveil the mechanism how disease becomes worse we might be able to stop it, but also to be able to predict the age of disease onset gives us a transmission pattern that can help patients’ management. And in fact, the study, published in the Journal of Neurology, Neurosurgery and Psychiatry, has already found an effect of gender on FAP onset with men having the disease earlier than women, suggesting a role for sex hormones in the disease and further unveiling this pattern.
Fuente : http://www.alphagalileo.org/ViewItem.aspx?ItemId=1...
Fuente : http://www.alphagalileo.org/ViewItem.aspx?ItemId=1...