HD Focus

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Inlägget Titta på RHS Nationella möte här! publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

Dal 19 al 22 ottobre si è tenuto in Belgio il Convegno 2023 dell’EHA European Huntington Association: quasi 300 partecipanti provenienti da oltre 23 paesi … Scopri di più

L'articolo Huntington Onlus al Convegno EHA 2023 sembra essere il primo su Huntington Onlus.

“Somatic expansion” is a hot topic in Huntington’s disease research. Somatic expansion is a process in which CAG repeats lengthen in some cells during aging. It’s thought to control how early HD symptoms appear. A group of researchers from Toronto, Canada recently identified proteins that may play an important role in regulating this process. Understanding how these proteins regulate somatic expansion in Huntington’s disease may hold the key for unlocking therapeutics for CAG repeat diseases.

Repetition is (the) key

Huntington’s disease (HD) is referred to as a “CAG repeat expansion disease” – it’s caused by an increase in the number of CAG repeats in the huntingtin gene. Everyone has the huntingtin gene – in fact, everyone even has a repetitive CAG sequence within their huntingtin gene. It’s just that people who will go on to develop HD have more CAGs within the huntingtin gene compared to people without HD.

ПРИЗВАНИЕ – ПОМОГАТЬ Её призвание – помогать людям, делать их жизни комфортными и безопасными. В выборе профессии Мария Робертовна Салембо не сомневалась ни секунды. Специалист по эрготерапии – это не столько врач в белом… More »

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Национальное общество по изучению болезни Паркинсона и расстроств движений, президентом которого является академик РАН С. Н. Иллариошкин, подготовило к этому дню серию интервью ведущих специалистов страны в этой области, посвященных… More »

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In recent years, HD research headlines have trended toward huntingtin lowering: experimental therapies that target the root genetic cause of HD. But there are also several drugs in development to treat HD that do not aim to lower huntingtin. Some of these are aimed at managing individual symptoms of HD, like managing involuntary movements, or improving cognition. Others take more preventative approaches, like preserving the health of brain cells or slowing down the expansion of CAG repeats in the huntingtin gene.

Beyond huntingtin lowering

HD is caused by an expansion in one section of the huntingtin gene, so cells produce an extra-long form of the huntingtin protein. Expanded huntingtin proteins are believed to be toxic, especially to the brain cells responsible for control of mood, movement, and memory. Naturally, this has made lowering the amount of expanded huntingtin in the brain and body a major priority of efforts to treat HD.

Schweizer Huntington Ferienwoche 2023 Nach langer Wartezeit konnten wir dieses Jahr wieder einmal eine Huntington Ferienwoche organisieren. Zwischen dem 23. und 29. September verbrachten 6 Personen eine wunderschöne Woche im FEW Familienferiendorf in Langenargen am Bodensee. Die Zimmer sind barrierefrei, freundlich und sauber und mit behindertengerechten Duschen und Toiletten eingerichtet. […]

Researchers studied a fragment of the Huntington’s disease (HD) protein in plants and found a new way to stop it from forming toxic clumps. A special plant protein that the team identified can prevent harmful buildup in plants as well as in some HD model systems, showing potential for this approach as a possible way to treat HD.

Why study HD in plants?

Plants are stuck in their environment, literally rooted to the ground, which means they cannot move if they start to experience challenging conditions such as too much sun, freezing cold or pesky predators. To help deal with the environmental troubles they can experience, plants have evolved all kinds of nifty ways to cope, which can make them very resilient to stress. Many plants can also live an extremely long time, so some scientists believe they might hold the key for studying and finding new medicines for human diseases of ageing.