Friday, January 27, 2006
Two Mutations
Researchers at Einstein College of Medicine have found that a gene mutation - the G2019S mutation of LRRK2 - is a major cause of Parkinson's disease in Ashkenazi Jews and some North African Arabs. This discovery could lead not only to new testing, diagnosis and counseling methods, but also, hopefully, to new therapies as well. Even if the gene doesn't cause all Parkinson's, learning how it causes some can give insight into the disease overall - if you know specifically what's going wrong due to this mutation, you can look for other ways for it to go wrong, and correct them.
Another mutation that is unfortunate for its hosts (but fortunate for people) is the mucA mutation in Pseudomonas aeruginosa, most famous for attacking the lungs of cystic fibrosis patients. The mutation, it seems, makes the bacteria extremely vulnerable to acidified sodium nitrite, a common meat preservative. This doesn't mean that eating bologna is good for CF patients - far from it - but it does promise to deliver some critical treatments for what has usually been considered an untreatable infection. It's been a good week for CF patients.
Another mutation that is unfortunate for its hosts (but fortunate for people) is the mucA mutation in Pseudomonas aeruginosa, most famous for attacking the lungs of cystic fibrosis patients. The mutation, it seems, makes the bacteria extremely vulnerable to acidified sodium nitrite, a common meat preservative. This doesn't mean that eating bologna is good for CF patients - far from it - but it does promise to deliver some critical treatments for what has usually been considered an untreatable infection. It's been a good week for CF patients.
