Conclusion:P4HA2 was identified as a novel causative gene for nonsyndromic high myopia. This study also indicated that the disruption of posttranslational modifications of collagen is an important factor in the pathogenesis of high myopia.
Segmental bone defects caused by trauma, tumor resection or congenital malformations are often reconstructed with autologous, allogeneic bone grafts or artificial bone materials, of which, about 5% ~ 10% will have delayed healing or even nonunion of fractures. The loss of periosteum and excessive accumulation of ROS in fracture site leads to the aging of osteoblasts and the decline of their proliferation and differentiation, thus affecting the fracture healing process. In this study, we prepared a functional modified artificial periosteum β‐TCP/MnO2/PCL(β‐TMP) by electrospinning with a function of catalyzing decomposition of H2O2. We examined the surface morphology of β‐TMP, the concentration of Ca, P and Mn of β‐TMP, as well as the diameter distribution range of nanofibers on β‐TMP. Through X‐ray diffraction patterns and Fourier transform infrared spectra, β‐TMP was characterized and its hydrophilicity was tested. The release of Mn2+ and Ca2+ of 0.1 and 0.05% β‐TMP in different pH values (7.4 and 5.5) determined by ICP. We also identified that β‐TMP could reduce the level of ROS in cells by lowering the level of H2O2. 0%, 0.05% and 0.1% β‐TMP displayed good cell compatibility, cell adhesion and cellular morphology in the condition with or without H2O2. 0.5% β‐TMP showed compromised cell compatibility in normal condition, however, the compromised phenotypes could be partially rescued in the present of H2O2. Compared with 0%, 0.05% and 0.1% β‐TMP displayed higher osteoblastic differentiation with or without H2O2 in BMSCs as well as in MG‐63. In sum, β‐TMP helped osteogenesis and promoted repair of bone defects.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, which is characterized by progressive degeneration of motor neurons and demonstrates high clinical heterogeneity and complex genetic architecture. We identified a variation within TRMT2B (c.1356G > T; p.K452N) to be associated with ALS in a family comprising two patients with juvenile ALS. Then, two missense variations and one splicing variation were identified in 10 ALS patients in our cohort with 910 ALS patients, and three more variations were identified in a publicly ALS database (ALSdb) including 2800 ALS patients. Functionally, we detected a decrease of mitochondrial complex I activities in patients originated Epstein-Barr virus–transformed lymphoblastoid cell lines due to decreased number of mitochondria and lower expression of ND1 in mitochondria. Further, we detected increasing ROS but decreased p62 expression alteration within patients. In conclusion, we identified a novel ALS-associated gene, TRMT2B, and broaden the clinical and genetic spectrum of ALS.
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