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<p>The low-density lipoprotein receptor-related protein 5 (LRP5) plays a pivotal role in bone formation, influencing the proliferation and differentiation of osteoblasts and thereby impacting overall bone mass. Genetic variations stemming from non-synonymous single nucleotide polymorphisms (nsSNPs) within the LRP5 gene can lead to either enhanced or diminished function of the resultant protein, culminating in distinct phenotypic expressions such as osteoporosis-pseudoglioma syndrome (OPPG) and high bone mass (HBM). Through in silico analysis of 17 identified nsSNPs, it was observed that 14 of these variants induced damage at highly conserved sites, resulting in the destabilization of both protein function and structure. Notably, the functional alteration, be it a gain or loss, is primarily dictated by the interaction between the molecule and LRP5, rather than the specific amino acid substitution. This research offers an identification of detrimental nsSNPs within the LRP5 protein and serves as a foundation for population-based investigations into the phenotypic repercussions on a broader scale.</p>

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Genetic variants in the LRP5 gene associated with gain and loss of bone mineral density

  • 期刊论文

  • 发表日期：

    2025年4月16日

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  • Daphany Marah Gorges,
  • Fabíola Branco Filippin-Monteiro

摘要

The low-density lipoprotein receptor-related protein 5 (LRP5) plays a pivotal role in bone formation, influencing the proliferation and differentiation of osteoblasts and thereby impacting overall bone mass. Genetic variations stemming from non-synonymous single nucleotide polymorphisms (nsSNPs) within the LRP5 gene can lead to either enhanced or diminished function of the resultant protein, culminating in distinct phenotypic expressions such as osteoporosis-pseudoglioma syndrome (OPPG) and high bone mass (HBM). Through in silico analysis of 17 identified nsSNPs, it was observed that 14 of these variants induced damage at highly conserved sites, resulting in the destabilization of both protein function and structure. Notably, the functional alteration, be it a gain or loss, is primarily dictated by the interaction between the molecule and LRP5, rather than the specific amino acid substitution. This research offers an identification of detrimental nsSNPs within the LRP5 protein and serves as a foundation for population-based investigations into the phenotypic repercussions on a broader scale.