Bioscience Reports· 2026Q1
MYH9 İlişkili Hastalarda Eritrosit Membran İskelet Yoğunluğu Azalmıştır
The membrane skeleton density of red blood cells in MYH9 -related disease patients is decreased
- 0atıf
- Q1SCImago
- 2026yıl
Kısa özet
MYH9 ilişkili hastalığı (MYH9-RD) olan hastalardan alınan kırmızı kan hücrelerinde (RBC), sağlıklı kontrollere kıyasla aktin, α-spektrin ve tropomodulin seviyeleri daha düşük olup, membran iskelet yoğunluğu azalmıştır.
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Özet (abstract)
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9 gene, which encodes the heavy chain of nonmuscle myosin IIA. Nearly all MYH9-RD patients present with macrothrombocytopenia, characterized by decreased platelet count and increased platelet size. In this study, we collected blood samples from three MYH9-RD patients (R702S, D1424N, and R1464C) and unexpectedly found that the actin levels in the red blood cells (RBCs) from all three MYH9-RD patients are substantially lower than the healthy controls. We further revealed that the levels of two RBC membrane skeleton proteins, α-spectrin and tropomodulin, are also reduced in MYH9-RD RBCs. We showed that the membrane skeleton of MYH9-RD RBCs was more porous and that MYH9-RD RBCs produced more severe deformation under hyperosmotic pressure compared to healthy controls. We propose that defects in the membrane-skeleton network of RBCs may be an abnormal manifestation of MYH9-RD.
Yazarların özeti; kaynağından alınmıştır. Bioscience Reports, 2026 · DOI ↗
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