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PLS3 mutations in X-linked osteoporosis with fractures
Fleur S van Dijk1, M Carola Zillikens, Dimitra Micha
1Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
The New England Journal of Medicine
|October 4, 2013
Summary
Genetic variations in Plastin 3 (PLS3) are linked to osteoporosis and fractures. This discovery identifies PLS3 as a novel factor contributing to bone health and fracture risk in the general population.
Area of Science:
- Genetics
- Bone Biology
- Molecular Biology
Background:
- Plastin 3 (PLS3) is a protein essential for forming filamentous actin (F-actin) bundles.
- Osteoporosis is a significant public health concern characterized by reduced bone density and increased fracture risk.
Purpose of the Study:
- To investigate the role of Plastin 3 (PLS3) in human bone health.
- To identify genetic variants in PLS3 associated with osteoporosis and osteoporotic fractures.
Main Methods:
- Genetic analysis of five families with X-linked osteoporosis and osteoporotic fractures.
- In vivo studies using zebrafish to assess bone-regulatory properties of PLS3.
- Analysis of a rare PLS3 variant (rs140121121) in additional families and its association with fracture risk in elderly women.
Main Results:
- Pathogenic variants in PLS3 were identified in families with X-linked osteoporosis and fractures.
- Zebrafish studies confirmed the bone-regulatory role of PLS3.
- A rare PLS3 variant (rs140121121) was associated with a two-fold increased fracture risk in elderly heterozygous women.
Conclusions:
- Genetic variation in PLS3 is a novel etiologic factor in osteoporosis.
- PLS3 plays a crucial role in maintaining bone health.
- These findings contribute to understanding the genetic basis of common, multi-factorial osteoporosis.
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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01:31Translation
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
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