Български
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
Human Molecular Genetics 2019-Sep

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

Само регистрирани потребители могат да превеждат статии
Вход / Регистрация
Линкът е запазен в клипборда
Elyshia McNamara
Rhonda Taylor
Joshua Clayton
Hayley Goullee
Kimberley Dilworth
Tomàs Pinós
Astrid Brull
Ian Alexander
Leszek Lisowski
Gianina Ravenscroft

Ключови думи

Резюме

McArdle disease is a disorder of carbohydrate metabolism that causes painful skeletal muscle cramps and skeletal muscle damage leading to transient myoglobinuria and increased risk of kidney failure. McArdle disease is caused by recessive mutations in the muscle glycogen phosphorylase gene (PYGM) leading to absence of PYGM enzyme in skeletal muscle and preventing access to energy from muscle glycogen stores. There is currently no cure for McArdle disease. Using a preclinical animal model, we aimed to identify a clinically translatable and relevant therapy for McArdle disease. We evaluated the safety and efficacy of recombinant adeno-associated virus serotype 8 (rAAV8) to treat a murine model of McArdle disease via delivery of a functional copy of the disease-causing gene, Pygm. Intraperitoneal injection of rAAV8-Pygm at post-natal day 1-3 resulted in Pygm expression at 8 weeks of age, accompanied by improved skeletal muscle architecture, reduced accumulation of glycogen and restoration of voluntary running wheel activity to wild-type levels. We did not observe any adverse reaction to the treatment at 8 weeks post-injection. Thus, we have investigated a highly promising gene therapy for McArdle disease with a clear path to the ovine large animal model endemic to Western Australia, and subsequently to patients.

Присъединете се към нашата
страница във facebook

Най-пълната база данни за лечебни билки, подкрепена от науката

  • Работи на 55 езика
  • Билкови лекове, подкрепени от науката
  • Разпознаване на билки по изображение
  • Интерактивна GPS карта - маркирайте билките на място (очаквайте скоро)
  • Прочетете научни публикации, свързани с вашето търсене
  • Търсете лечебни билки по техните ефекти
  • Организирайте вашите интереси и бъдете в крак с научните статии, клиничните изследвания и патентите

Въведете симптом или болест и прочетете за билките, които биха могли да помогнат, напишете билка и вижте болестите и симптомите, срещу които се използва.
* Цялата информация се базира на публикувани научни изследвания

Google Play badgeApp Store badge