Hội chứng giả bóc tách, một rối loạn hệ thống với các biểu hiện ở mắt

Eman Elhawy1, Gautam Kamthan2, Cecilia Q. Dong1, John Danias1
1Department of Ophthalmology, SUNY Downstate Medical Center, 450 Clarkson Ave, Brooklyn, NY, 11203, USA
2Department of Ophthalmology, Mount Sinai Medical Center, New York, NY, 10029, USA

Tóm tắt

Tóm tắt Hội chứng giả bóc tách (PXS) là một tình trạng hệ thống có các biểu hiện ở mắt. Trong mắt, vật liệu giả bóc tách lắng đọng trên nhiều cấu trúc của phần trước mắt. Tính chất của vật liệu này chủ yếu là dạng sợi với các sợi được cấu tạo từ vi sợi và được bao bọc bằng vật liệu vô định hình. Thành phần của các vi sợi này rất đa dạng và bao gồm các thành phần màng đáy cũng như các enzyme tham gia vào việc duy trì ma trận ngoại bào. Giả bóc tách là nguyên nhân phổ biến nhất gây ra glaucoma góc mở thứ phát (glaucoma giả bóc tách, PXG) trên toàn cầu. Mục tiêu của bài đánh giá này là tóm tắt kiến thức của chúng tôi về di truyền học của rối loạn hệ thống này và các biểu hiện mắt được sinh ra từ nó. Sự tập hợp gia đình PXS cho thấy sự di truyền. PXS đã được liên kết chặt chẽ với các biến thể đơn nucleotide (SNPs) của gen lysyl oxidase-like 1 (LOXL1) trên nhiễm sắc thể 15q24.1. Hai trong số các SNP này gây ra nguy cơ đóng góp cho dân số cao hơn 99% cho PXS và PXG trong quần thể Bắc Âu; tuy nhiên, chúng mang lại những nguy cơ khác nhau ở các quần thể khác nhau. Các haplotype có nguy cơ cao cũng khác nhau giữa các quần thể khác nhau. LOXL1 là một trong số các enzyme tham gia vào việc liên kết collagen và elastin trong ma trận ngoại bào. Chức năng của nó trong việc duy trì mô liên kết đã được xác nhận ở chuột; tuy nhiên, vai trò thực tế của nó trong PXS vẫn chưa rõ ràng. Protein liên kết với contactin-2 cũng có sự liên kết di truyền mạnh với PXS trong một nhóm người Đức và là một phân tử ứng cử viên hấp dẫn. Nó mã hóa cho một protein tham gia vào việc vận chuyển kênh kali. Các gen ứng cử viên khác liên quan đến PXS bao gồm chất điều hòa vận chuyển lysosome, clusterin, thụ thể adenosine, matrix metalloproteinase-1 (MMP1) và glutathione transferase. Những gen này có thể là các gen điều chỉnh cho sự phát triển của PXS và PXG.

Từ khóa


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