Department of Biochemistry, Tokyo Dental College, 2-9-18 Kandamisaki-cho, Chiyoda-ku, Tokyo 101-0061, Japan.
Oral Health Science Center, Tokyo Dental College, 2-9-18 Kandamisaki-cho, Chiyoda-ku, Tokyo 101-0061, Japan.
Int J Mol Sci. 2023 Sep 7;24(18):13802. doi: 10.3390/ijms241813802.
The development of next-generation sequencing (NGS) has dramatically increased the speed and volume of genetic analysis. Furthermore, the range of applications of NGS is rapidly expanding to include genome, epigenome (such as DNA methylation), metagenome, and transcriptome analyses (such as RNA sequencing and single-cell RNA sequencing). NGS enables genetic research by offering various sequencing methods as well as combinations of methods. Bone tissue is the most important unit supporting the body and is a reservoir of calcium and phosphate ions, which are important for physical activity. Many genetic diseases affect bone tissues, possibly because metabolic mechanisms in bone tissue are complex. For instance, the presence of specialized immune cells called osteoclasts in the bone tissue, which absorb bone tissue and interact with osteoblasts in complex ways to support normal vital functions. Moreover, the many cell types in bones exhibit cell-specific proteins for their respective activities. Mutations in the genes encoding these proteins cause a variety of genetic disorders. The relationship between age-related bone tissue fragility (also called frailty) and genetic factors has recently attracted attention. Herein, we discuss the use of genomic, epigenomic, transcriptomic, and metagenomic analyses in bone genetic disorders.
下一代测序（NGS）的发展极大地提高了遗传分析的速度和规模。此外，NGS 的应用范围正在迅速扩大，包括基因组、表观基因组（如 DNA 甲基化）、宏基因组和转录组分析（如 RNA 测序和单细胞 RNA 测序）。NGS 通过提供各种测序方法以及方法组合，为遗传研究提供了可能。骨骼组织是支撑身体的最重要单位，是钙和磷酸盐离子的储存库，这些离子对身体活动很重要。许多遗传疾病会影响骨骼组织，这可能是因为骨骼组织中的代谢机制很复杂。例如，骨骼组织中存在一种称为破骨细胞的专门免疫细胞，它们吸收骨骼组织，并以复杂的方式与成骨细胞相互作用，以支持正常的生命功能。此外，骨骼中的许多细胞类型都表现出与其各自活动相对应的细胞特异性蛋白。这些蛋白编码基因的突变会导致多种遗传疾病。与年龄相关的骨骼组织脆弱（也称为脆弱）和遗传因素之间的关系最近引起了人们的关注。在此，我们讨论了基因组、表观基因组、转录组和宏基因组分析在骨骼遗传疾病中的应用。
