Abrogation of LBX1 in skeletal muscle results in hypoplastic limbs and progressive kyphosis in mice

Matsuhashi, Yusuke; Horiuchi, Keisuke; Nakagawa, Takahiro; Takahashi, Yohei; Imabayashi, Hideaki; Hosogane, Naobumi; Watanabe, Kota; Matsumoto, Morio; Chiba, Kazuhiro

doi:10.1002/jor.25417

Cited by 2 publications

(1 citation statement)

References 33 publications

(98 reference statements)

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“…AIS is often accompanied by differential expression of genes in paraspinal muscle cells. The abnormal expression of the LBX1 gene has been replicated in a large sample of multi-ethnic AIS patients ( 50 , 51 ) and successfully verified in mouse experiments ( 52 ). Low expression of the LBX1 gene may reduce energy supply to skeletal muscle cells and accelerate disease progression by affecting galactose metabolism and glycolytic pathways ( 53 ).…”

Section: Discussionmentioning

confidence: 79%

Advances in genetic factors of adolescent idiopathic scoliosis: a bibliometric analysis

Jiang,

Liu,

Zhang

et al. 2024

Front. Pediatr.

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ObjectiveThis study offers a bibliometric analysis of the current situation, hotspots, and cutting-edge domains of genetic factors of adolescent idiopathic scoliosis (AIS).MethodsAll publications related to genetic factors of AIS from January 1, 1992, to February 28, 2023, were searched from the Web of Science. CiteSpace software was employed for bibliometric analysis, collecting information about countries, institutions, authors, journals, and keywords of each article.ResultsA cumulative number of 308 articles have been ascertained. Since 2006, publications relating to genetic factors of AIS have significantly increased. China leads in both productivity and influence in this area, with the Chinese Academy of Medical Sciences being the most productive institution. The most prolific scholars in this field are Y. Qiu and Z. Z. Zhu. The publications that contributed the most were from Spine and European Spine Journal. The most prominent keywords in the genetic factors of AIS were “fibrillin gene”, “menarche”, “calmodulin”, “estrogen receptor gene”, “linkage analysis”, “disc degeneration”, “bone mineral density”, “melatonin signaling dysfunction”, “collagen gene”, “mesenchymal stem cell”, “LBX1”, “promoter polymorphism”, “Bone formation”, “cerebrospinal fluid flow” and “extracellular matrix”.ConclusionThis analysis provides the frontiers and trends of genetic factors in AIS, including relevant research, partners, institutions and countries.

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Section: Discussionmentioning

confidence: 79%

Advances in genetic factors of adolescent idiopathic scoliosis: a bibliometric analysis

Jiang,

Liu,

Zhang

et al. 2024

Front. Pediatr.

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The alteration of LBX1 expression is associated with changes in parameters related to energy metabolism in mice

Nakagawa,

Horiuchi,

Kagami

et al. 2024

PLoS ONE

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The LBX1 gene is located near a single nucleotide polymorphism that is highly associated with susceptibility to adolescent idiopathic scoliosis and is considered one of the strongest candidate genes involved in the pathogenesis of this condition. We have previously found that loss of LBX1 from skeletal muscle results not only in spinal deformity but also in lean body mass, suggesting a potential role for LBX1 in energy metabolism. The purpose of the present study was to test this hypothesis by analyzing the phenotype of mice lacking LBX1 in skeletal muscle with a focus on energy metabolism. We found that loss of LBX1 rendered mice more resistant to high-fat diet-induced obesity, despite comparable food intake between mutant and control mice. Notably, the mutant mice exhibited improved glucose tolerance, increased maximal aerobic capacity, and higher core body temperature compared to control mice. In addition, we found that overexpression of LBX1 decreased glucose uptake in cultured cells. Taken together, our data show that LBX1 functions as a negative regulator of energy metabolism and that loss of LBX1 from skeletal muscle increases systemic energy expenditure resulting in lean body mass. The present study thus suggests a potential association between LBX1 dysfunction and lean body mass in patients with adolescent idiopathic scoliosis.

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Abrogation of LBX1 in skeletal muscle results in hypoplastic limbs and progressive kyphosis in mice

Cited by 2 publications

References 33 publications

Advances in genetic factors of adolescent idiopathic scoliosis: a bibliometric analysis

Advances in genetic factors of adolescent idiopathic scoliosis: a bibliometric analysis

The alteration of LBX1 expression is associated with changes in parameters related to energy metabolism in mice

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