Our @CircAHA paper on the causes of Hypertrophic Cardiomyopathy (HCM) in patients carrying myosin variants (MYH7) examined the fundamental mechanisms that drive HCM and how they predict clinical outcomes. https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.119.042339 …
Bonus gif of HCM cell beating in a dish.pic.twitter.com/X3Uv0izsrq
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Firstly, we found that hibernation in mammals caused myosin, the molecular motor of muscle contraction, to switch off in the heart. We proposed that humans have this same switch in their hearts, a mechanism conserved in evolution.pic.twitter.com/NAogfWjMsu
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Secondly, we observed that many mutations in myosin that cause HCM may interfere with the myosin off-state; switching them inappropriately on. This could account for clinical features of HCM in these patients.pic.twitter.com/9BG0FhEurV
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Our experiments showed that 'off' myosin could be restored in human cells made from stem cells. This can be done by treating with a compound that binds to myosin and slows its ability to use ATP, the cellular source of energy.pic.twitter.com/f3JPuma2zd
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Too much ‘on’ myosin caused hypercontractility and poor cellular relaxation, which could be corrected by restoring appropriate levels of ‘off’ myosin.pic.twitter.com/akzLXvKDIq
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Too much ‘on’ myosin also made cells grow bigger and use more oxygen, and by re-balancing ‘off’ myosin these cellular changes went away.pic.twitter.com/9nmVsz0Wti
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Human tissue from HCM patients showed reduced ‘off’ myosin, which was restored by the same myosin blocking compound. Unfortunately, patients with reduced ‘off’ myosin have more HF and AF. The good news is that we understand why and have a possible way to correct this imbalance.pic.twitter.com/RNpDcDfJwR
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Thanks to
@wellcometrust@TheBHF@HHMINEWS@NIH@SHaRe_Registry. This work was performed by at@HMS,@UniofOxford,@radcliffe, at@BU and more. Big thanks to@amandagarfinkel@radhikawal@euanashley@danieljacoby@sday_hcm@Anantchopra@hugh_watkins6@ArunSharmaPhD@yv5fih.1 reply 0 proslijeđenih tweetova 6 korisnika označava da im se sviđaPrikaži ovu nit
Thanks to @EkaterinaPeshev for the beautiful write up! @HarvardResearch @harvardmed @BrighamResearchhttps://hms.harvard.edu/news/revving-engine …
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Odgovor korisnicima @ChrisToepfer @wellcometrust i još
#RareDisease - New information toward understanding ARVD/ARVC , hypertrophic cardiomyopathy.0 replies 0 proslijeđenih tweetova 0 korisnika označava da im se sviđaHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi
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