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Camila Xu
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Juvenile Primary Osteoporosis
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This entry is adapted from https://medlineplus.gov/genetics/condition/juvenile-primary-osteoporosis

Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture.

genetic conditions
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Camila Xu
View Times: 133
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Table of Contents

    1. Introduction

    Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.

    2. Frequency

    The prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 adults over age 50 have osteoporosis, but the condition is uncommon in children. Osteoporosis can occur at a young age as a feature of other conditions but rarely occurs without other signs and symptoms (primary osteoporosis).

    3. Causes

    Mutations in the LRP5 gene can cause juvenile primary osteoporosis. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein is involved in the regulation of bone mineral density.

    LRP5 gene mutations that cause juvenile primary osteoporosis result in an LRP5 protein that cannot transmit signals along the pathway. The resulting reduction in signaling impairs proper bone development, causing decreased bone mineral density and osteoporosis at a young age.

    Many people with childhood-onset osteoporosis do not have a mutation in the LRP5 gene. (When its cause is unknown, the condition is often called idiopathic juvenile osteoporosis). It is likely that mutations in other genes that have not been identified are involved in this condition.

    3.1. The gene associated with Juvenile primary osteoporosis

    • LRP5

    4. Inheritance

    This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

    5. Other Names for This Condition

    • childhood-onset primary osteoporosis

    • idiopathic juvenile osteoporosis

    References

    1. Hartikka H, Mäkitie O, Männikkö M, Doria AS, Daneman A, Cole WG, Ala-Kokko L, Sochett EB. Heterozygous mutations in the LDL receptor-related protein 5 (LRP5)gene are associated with primary osteoporosis in children. J Bone Miner Res. 2005May;20(5):783-9.
    2. Korvala J, Jüppner H, Mäkitie O, Sochett E, Schnabel D, Mora S, Bartels CF,Warman ML, Deraska D, Cole WG, Hartikka H, Ala-Kokko L, Männikkö M. Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC Med Genet. 2012 Apr 10;13:26. doi: 10.1186/1471-2350-13-26.
    3. Rauch F, Travers R, Norman ME, Taylor A, Parfitt AM, Glorieux FH. The boneformation defect in idiopathic juvenile osteoporosis is surface-specific. Bone.2002 Jul;31(1):85-9.
    4. Zhang C, Liu Z, Klein GL. Overview of pediatric bone problems and relatedosteoporosis. J Musculoskelet Neuronal Interact. 2012 Sep;12(3):174-82. Review.
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    Information
    Subjects: Genetics & Heredity
    Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
    Camila Xu
    View Times: 133
    Entry Collection: MedlinePlus
    Revision: 1 time (View History)
    Update Date: 23 Dec 2020
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      Xu, C. Juvenile Primary Osteoporosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4378 (accessed on 02 June 2023).
      Xu C. Juvenile Primary Osteoporosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4378. Accessed June 02, 2023.
      Xu, Camila. "Juvenile Primary Osteoporosis" Encyclopedia, https://encyclopedia.pub/entry/4378 (accessed June 02, 2023).
      Xu, C. (2020, December 23). Juvenile Primary Osteoporosis. In Encyclopedia. https://encyclopedia.pub/entry/4378
      Xu, Camila. "Juvenile Primary Osteoporosis." Encyclopedia. Web. 23 December, 2020.
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