HD Focus: News Across the Globe

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 »

The post Международный день расстройств движений! appeared first on Центр помощи пациентам с орфанными заболеваниями.

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.

ONE of Scotland’s fittest footballers has opened up on knowing he will one day develop the rare incurable genetic brain condition Huntington’s disease – and his refusal to let it stop him living a full and healthy life for as long as possible.  Cowdenbeath captain Robbie McNab, 27, discovered he

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A recent paper from a group at UMass Chan Medical School, spearheaded by Dr. Daniel O'Reilly and led by Dr. Anastasia Khvorova, used genetic strategies to lower a protein other than huntingtin. This time the researchers went after a gene called MSH3. This is a gene that’s been getting a lot of attention in Huntington’s disease research as of late. So what’s all the hype about? And does this mean we’ve abandoned huntingtin lowering?

CAG stutter

One of the most interesting findings in HD research in the past several years has been something called “somatic instability,” which is also sometimes called “somatic expansion.” It refers to the perpetual expansion of the CAG repeat in “somatic” cells, or cells of the body. You can think of it like a molecular stutter of the CAGs in the huntingtin gene.