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一个错义变异可能是与骨组织改变相关的遗传生物标志物。

A Missense Variant in Could Be a Genetic Biomarker Associated with Bone Tissue Alterations.

机构信息

Department of Cell Biology, Genetics, Histology and Pharmacology, Faculty of Medicine, University of Valladolid, 47003 Valladolid, Spain.

IOBA-Eye Institute, University of Valladolid, 47011 Valladolid, Spain.

出版信息

Int J Mol Sci. 2024 Jan 23;25(3):1395. doi: 10.3390/ijms25031395.

DOI:10.3390/ijms25031395
PMID:38338673
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10855390/
Abstract

Metabolic bone diseases cover a broad spectrum of disorders that share alterations in bone metabolism that lead to a defective skeleton, which is associated with increasing morbidity, disability, and mortality. There is a close connection between the etiology of metabolic bone diseases and genetic factors, with being one of the genes associated therewith. The single nucleotide polymorphism (SNP) Arg72Pro of is a genetic factor associated with several pathologies, including cancer, stroke, and osteoporosis. Here, we aim to analyze the influence of the Arg72Pro SNP on bone mass in humanized Tp53 Arg72Pro knock-in mice. This work reports on the influence of the Arg72Pro polymorphism in bone microarchitecture, OPG expression, and apoptosis bone status. The results show that the proline variant of the TP53 Arg72Pro polymorphism (Pro72-p53) is associated with deteriorated bone tissue, lower OPG/RANK ratio, and lower apoptosis in bone tissue. In conclusion, the Arg72Pro polymorphism modulates bone microarchitecture and may be a genetic biomarker that can be used to identify individuals with an increased risk of suffering metabolic bone alterations.

摘要

代谢性骨病涵盖了广泛的疾病谱，这些疾病的共同点是骨代谢发生改变，导致骨骼缺陷，这与发病率、残疾率和死亡率的增加有关。代谢性骨病的病因与遗传因素密切相关，其中 是与之相关的基因之一。 基因的 Arg72Pro 单核苷酸多态性（SNP）是与多种疾病相关的遗传因素，包括癌症、中风和骨质疏松症。在这里，我们旨在分析 Arg72Pro SNP 对人源化 Tp53 Arg72Pro 敲入小鼠骨量的影响。本工作报告了 Arg72Pro 多态性对骨微结构、OPG 表达和骨组织细胞凋亡状态的影响。结果表明，TP53 Arg72Pro 多态性的脯氨酸变体（Pro72-p53）与骨组织恶化、OPG/RANK 比值降低和骨组织细胞凋亡减少有关。总之， Arg72Pro 多态性调节骨微结构，可能是一种遗传生物标志物，可用于识别代谢性骨改变风险增加的个体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f74d/10855390/272e9ae948ba/ijms-25-01395-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f74d/10855390/a0e71b9716e8/ijms-25-01395-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f74d/10855390/bd6344f1dcb9/ijms-25-01395-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f74d/10855390/9efee146a6bc/ijms-25-01395-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f74d/10855390/cba19c1151c7/ijms-25-01395-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f74d/10855390/272e9ae948ba/ijms-25-01395-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f74d/10855390/a0e71b9716e8/ijms-25-01395-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f74d/10855390/bd6344f1dcb9/ijms-25-01395-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f74d/10855390/9efee146a6bc/ijms-25-01395-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f74d/10855390/cba19c1151c7/ijms-25-01395-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f74d/10855390/272e9ae948ba/ijms-25-01395-g005.jpg

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