Rối loạn chức năng cơ trong bệnh cơ tim phì đại: Cần gì để tiến tới ứng dụng thực tiễn?

Springer Science and Business Media LLC - Tập 35 - Trang 37-45 - 2014
Corrado Poggesi1, Carolyn Y. Ho2
1Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
2Cardiovascular Division, Brigham and Women's Hospital, Boston, USA

Tóm tắt

Bệnh cơ tim phì đại (HCM) do những đột biến trong các gen sarcomere gây ra. Do đó, HCM cung cấp những cơ hội đáng chú ý để nghiên cứu cách mà những thay đổi trong cơ chế vận động phân tử của tim có thể ảnh hưởng đến cấu trúc và chức năng của tim. Mặc dù cơ sở di truyền của HCM đã được mô tả rõ ràng, nhưng sự hiểu biết về những hậu quả chính xác của các đột biến sarcomere – cách mà chúng hình thành lại tim, và những thay đổi này dẫn đến những hệ quả lâm sàng nghiêm trọng liên quan đến HCM vẫn còn rất hạn chế. Việc mô tả chính xác các cơ chế dẫn dắt từ đột biến sarcomere đến chức năng cơ tim bị thay đổi là rất quan trọng để có cái nhìn sâu sắc về sinh học bệnh tật cơ bản và sự tiến triển của biểu hiện lâm sàng. Kiến thức này sẽ giúp thúc đẩy sự phát triển của các chiến lược điều trị mới hướng tới việc sửa chữa và ngăn chặn sự phát triển của bệnh trong HCM.

Từ khóa

#bệnh cơ tim phì đại #rối loạn chức năng cơ #đột biến sarcomere #sinh học bệnh tật #chiến lược điều trị

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