4 ms·
TL;DR Huntington's is caused by an error in a section of DNA called the huntingtin gene. Normally this contains the instructions for making a protein, called h
by kurthr 9y ago
TL;DR
Huntington's is caused by an error in a section of DNA called the huntingtin gene.
Normally this contains the instructions for making a protein, called huntingtin, which is vital for brain development.
But a genetic error corrupts the protein and turns it into a killer of brain cells.
The treatment is designed to silence the gene.
One fear was the injections could have caused fatal meningitis.
But the first in-human trial showed the drug was safe, well tolerated by patients and crucially reduced the levels of huntingtin in the brain.
The UCL scientist, who was not involved in the research, says the same approach might be possible in other neurodegenerative diseases that feature the build-up of toxic proteins in the brain.
The protein synuclein is implicated in Parkinson's while amyloid and tau seem to have a role in dementias.
Off the back of this research, trials are planned using gene-silencing to lower the levels of tau.
- tqkxzugoaupvwqr 9y agoI wish all articles were written like your tldr. The BBC article is atrocious, it reads like a list of bullet points. A single sentence per paragraph, no flow.
- cjsuk 9y agoThey're going after the Daily Mail readers who can cope with a few more syllables in their words.
- TylerH 9y agoHere is the Guardian piece on it that reads much better. https://www.theguardian.com/science/2017/dec/11/excitement-as-huntingtons-drug-shown-to-slow-progress-of-devastating-disease https://www.theguardian.com/science/2017/dec/11/excitement-a...
- thriftwy 9y agoI wonder how this genetic error could propagate wide enough for the disease to get a name. It's clearly maladaptive, isn't it? Of course, same question could be asked for BRCA.
- dEnigma 9y agoSee my other comment for a possible explanation. There seems to be a link between complex brain development and Chorea Huntington, where a higher number of triplets in the gene leads to higher intelligence or more complex brains, but when the number gets too high the disease develops.
- philjohn 9y agoBecause it usually only kicks in after childbearing years, until relatively recently there's not been a test for it, so no way to know if you'd pass it onto your children, and in the last 200 years life expectancy has gone past the age at which is kicks in, highlighting it more.
- thriftwy 9y ago> Because it usually only kicks in after childbearing years Orphans are not a very good evolutionary tactics. But you definitely have a point otherwise. Had it earlier onset age, it would have no way to propagate.
- Retric 9y agoHistorically 30-50 would be often be grandparents or great grandparents which has much less evolutionary pressure. Though they would likely still have underage kids.
- 9y ago
- deleted 9y ago[deleted]