Another SNP is the M129V SNP, also in the PRNP gene (6). D178N is a SNP for residue 178 in the PRNP gene (8). So far, the mutations is the genes are from SNP’s, where one small segment of the DNA is switched. This mutation causes the gene to create misfolded prion protein – these prion proteins are toxic and will build up in the brain, destroying important nerve cells, leading to the symptoms of the disease (5). These kinds of diseases occur when the PRNP gene, a gene which controls the creation of prion protein, has a mutation (5).
#FFI DISEASE HOW TO#
Even if you don’t think you have it, getting tested for the FFI gene can provide scientists with the information they need to find the origin of the disease, and how to treat and cure it.įFI is known as a Prion disease.
But ultimately, so little is known about it that scientists are struggling to find a complete explanation – and indeed, a cure – for this rare disease. This means that the disease can still occur anywhere. This mental deterioration continues for about a year or so until “the disease ultimately progresses to coma and death” (5).īut even as horrifying as that seems, as long as we aren’t one of the 25 families, we don’t have to worry about the disease, right? Unfortunately, it doesn’t seem completely so – in 2004, doctors studied the case of a man with the disease who was of Chinese descent – the first case of FFI ever in the Chinese population (9). This impacts the human body’s ability to maintain body temperature, heart rate, and blood pressure (5). As time progresses, however, there will be significant mental deterioration: dementia, problems with cognition and thought, and “dysfunction of the autonomic nervous system” (5). The symptoms of the disease are initially mild – usually just an inability to sleep. FFI is the rarest known prion disease today – only 25 families are known to have it (2). Well let’s consider this disease: Fatal Familial Insomnia (FFI). Which means I don’t have to worry about getting it myself then, right? What do we think of when we think about rare diseases? Well first of all, they’re rare: no one around me has it, my parents don’t have it, chances are, I won’t get it, nor will my children get it.
0 kommentar(er)
