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Các bệnh mucopolysaccharidosis: Lỗi bẩm sinh trong sự chuyển hóa glycosaminoglycan
Tóm tắt
Các bệnh mucopolysaccharidosis là các rối loạn di truyền trong sự chuyển hóa glycosaminoglycan. Bệnh nhân mắc các bệnh này tích lũy lượng lớn dermatan và/hoặc heparan sulfate, hoặc keratan sulfate trong lysosome của hầu hết các mô. Các hậu quả lâm sàng của việc tích lũy glycosaminoglycan này dao động từ dị dạng xương đến các vấn đề tim mạch, và đến chậm phát triển vận động và trí tuệ. Trong tất cả các bệnh mucopolysaccharidosis, ngoại trừ bệnh Morquio, đã chứng minh sự tích lũy quá mức glycosaminoglycan có gắn sulfate trong các tế bào sợi được nuôi cấy từ da bệnh nhân. Sau đó, đã chỉ ra rằng điều này là do sự thiếu hụt các protein cụ thể được gọi là "các yếu tố sửa chữa", vì sự bổ sung của chúng vào môi trường nuôi cấy làm bình thường hóa sự phân hủy glycosaminoglycan bị suy yếu trong các tế bào sợi của bệnh mucopolysaccharidosis tương ứng. Việc điều tra chức năng của các yếu tố sửa chữa, và các nghiên cứu khác, đã dẫn đến việc xác định khiếm khuyết enzym trong từng loại mucopolysaccharidosis. Hiện tại, bảy loại thiếu hụt enzym lysosome đã được công nhận trong nhóm rối loạn này. Một phân loại các bệnh theo các sản phẩm gen đột biến cho thấy có sự biến đổi kiểu hình đáng kể không chỉ giữa các bệnh, mà còn trong nhiều loại bệnh. Với sự có mặt của các xét nghiệm enzym thích hợp, những khó khăn trước đây trong chẩn đoán các rối loạn này đã được khắc phục. Ngoài ra, cũng có các phương pháp chẩn đoán trước sinh và phát hiện các cá thể mang gen lặn ở phần lớn các bệnh mucopolysaccharidosis. Mặc dù việc sửa chữa khiếm khuyết chuyển hóa thông qua thay thế enzym đã được thực hiện trong nuôi cấy mô, vẫn còn nhiều vấn đề cần được giải quyết trước khi liệu pháp này có thể trở thành khả thi cho chính các bệnh nhân.
Từ khóa
#mucopolysaccharidosis #glycosaminoglycan #rối loạn di truyền #thiếu hụt enzym #chẩn đoán trước sinhTài liệu tham khảo
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