Biến thể trình tự đa hình Inosine Triphosphate Pyrophosphohydrolase (ITPA) ở bệnh nhân ung thư huyết khối trưởng thành và mối liên hệ có thể với các khuyết tật DNA ti thể
Tóm tắt
Enzyme inosine triphosphate pyrophosphohydrolase (ITPase) được coi là enzyme dọn dẹp, có nhiệm vụ phân hủy các nucleotide không điển hình (‘rogue’). Thiếu hụt hoàn toàn enzyme này có thể gây tử vong ở chuột knockout, trong khi một kiểu gen đột biến dẫn đến hoạt động enzyme thấp, với sự tích tụ của ITP và các nucleotide không điển hình khác, dường như không gây hại cho con người. Chúng tôi giả thuyết rằng hoạt động ITPase giảm có thể gây ra các khuyết tật DNA ti thể (mtDNA) mắc phải. Hơn nữa, chúng tôi điều tra xem liệu những khuyết tật mtDNA tích tụ có thể là yếu tố nguy cơ cho sự biến đổi tế bào trong ung thư huyết học trưởng thành (AHM) hay không.
Dữ liệu DNA được tách chiết từ mẫu máu ngoại vi và tủy xương. Phân tích giải trình tự mtDNA dựa trên microarray được thực hiện trên 13 bệnh nhân AHM có xác nhận mang đột biến
Từ khóa
#ITPase #mtDNA #biến thể đa hình #ung thư huyết học trưởng thành #nucleotide không điển hình.Tài liệu tham khảo
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