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Review
. 2023 Sep 7;24(18):13802.
doi: 10.3390/ijms241813802.

Current Status of Next-Generation Sequencing in Bone Genetic Diseases

Natsuko Aida  1 , Akiko Saito  1 , Toshifumi Azuma  1   2
Affiliations
Review

Current Status of Next-Generation Sequencing in Bone Genetic Diseases

Natsuko Aida et al. Int J Mol Sci. .

Abstract

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.

Keywords: bone genetic diseases; genes in bone tissues; genome; next-generation sequencing.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Location of each SNP in the gene region.
Figure 2
Figure 2
Example of linkage disequilibrium.
Figure 3
Figure 3
Various NGS-based sequencing methods.
Figure 4
Figure 4
Schematic diagram of mutation analysis by genomics sequencing using a sample derived from a patient with a genetic disease.
See this image and copyright information in PMC

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