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Defect that causes Huntington's disease has been corrected for the first time
- kurthr 9y agoTL;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.
- deleted 9y ago[deleted]
- dEnigma 9y agoSlightly off-topic, but there is an interesting connection between Chorea Huntington and the evolution of complex brains and intelligence: https://www.economist.com/news/science-and-technology/21645713-could-key-evolution-human-brain-be-found-dreadful https://www.economist.com/news/science-and-technology/216457...
- Real_S 9y agoInteresting connection with brain complexity, but note that the function of the Huntinton's gene remains poorly understood. Something that may be related... The same unstable repeat that causes the disease is ancient and is conserved throughout mammals! So other mammals can get a similar disease driven by the same mutations. This is useful for generating models of the disease in other mammals (e.g. mice). Such conservation of repeats is exceptionally rare.
- Merem 9y agoGreat news. Although it's already too late for my mother, my sister can definitely profit from it if it turns out well. And I guess I will have to take the test now to see whether I have the disease as well...
- filipncs 9y agoBest of luck.
- jhiska 9y agoWhat the BBC doesn't say is that this is an important step towards eventually being able to genetically modify healthy, adult people. It's a trojan horse, and the clever thing about it is that there are valid medical reasons for it.
- icebraining 9y agoWhy is this an important step towards eventually being able to genetically modify healthy, adult people?
- gozur88 9y agoAnd why is it wrong for healthy people to have modifications done?
- ap3 9y agoYes, plastic surgery for example
- DubiousPusher 9y agoWhat is wrong with people having plastic surgery exactly?
- jhiska 9y agoBecause it could be forced on them.
- gozur88 9y agoWell, sure, that's possible. But then it would be the forcing that's wrong.
- jhiska 9y agoIn my view, having the tech is what's wrong, because then it will be inevitably misused by the ruling classes to potentially catastrophic effect. You effectively can't trust the regulators of something so potentially disruptive of the balance of power.
- ams6110 9y ago"Corrected" seems a bit strong. The treatment mitigates the cause of the disease but it's not a cure, at least not yet. Does sound promising.
- gradyj 9y agoThis is awesome. Unfortunately, we lost both my cousin and uncle from this but I'm glad I'm finally seeing a potential cure for this horrible disease.
- caryelikarol 9y agoExcellente lo recomiendo el generador de contenido git colaborador al mismo tiempo
- canadiancreed 9y agoI wonder if this can be extended to other brain related illnesses such as Alzheimers.
- contravariant 9y agoI think the treatment will generalise better to other genetic diseases than to other brain diseases, let alone a brain disease like Alzheimer for which the cause is badly understood.
- agentofoblivion 9y agoReally cool to see progress on this terrible disease.
- lostlogin 9y agoIf anyone has a bit of spare time, The Inheritance is a documentary worth watching. It’s about a family with Huntington’s disease and them living and dying with it. No affiliation. https://theinheritancedocumentary.com https://theinheritancedocumentary.com
- TheBeardKing 9y agoSince this drug was developed on public funding in the UK, how does that affect its pricing and incorporation in the NHS? I assume whoever gets the license to sell it in the US will have exclusivity and make it expensive as hell. edit: Never mind, although the research took place at the University of London, it was funded by Ionis Pharmaceuticals (US) and further by Roche (Swiss multinational). The Guardian article relegates that bit of info to the very last line, as if they were just a minor part of the effort. http://markets.businessinsider.com/news/stocks/Ionis-Pharmaceuticals-Licenses-IONIS-HTT-Rx-to-Partner-Following-Successful-Phase-1-2a-Study-in-Patients-with-Huntington-s-Disease-1010933822 http://markets.businessinsider.com/news/stocks/Ionis-Pharmac...
- cromulent 9y agoPrevious discussion: https://news.ycombinator.com/item?id=15896616 https://news.ycombinator.com/item?id=15896616