The process of change over generations of populations of organisms is referred to as evolution. These changes are a result of genetic variation that arises from genetic recombination or genetic mutation, thus altering the gene activity or protein function. This often results in different traits in the organism that might be passed on to the next generation through natural selection. Only hereditary mutations that occur in the sperm or egg cells lead to evolution as they are passed on from one generation to another. Such a mutation is the one that occurs on the LRP5 gene. This gene is responsible for a variety of functions such as the maintenance and development of several tissues. The mutations that occur on this gene results in several detrimental effects on the human body. The LRP5 gene found in the human body undergoes mutation to result in detrimental conditions that affect the bone density and retina development of human beings.
LRP5 Gene
The LRP5 is a gene found in the cell of human beings. The gene is in charge of the manufacturing of a protein found in the outer membrane of numerous cells in the body (NIH, 2020). The gene works with the FZD4 protein receptor in the Wnt signaling pathway, thus affecting how tissue and cells develop. The Wnt signaling allows for adhesion, migration, and proliferation in the cells. During early development, the LRP5 gene is responsible for guiding the specification of cells in the retina and is active in establishing blood supply to the ear and the retina (NIH, 2020). It is also responsible for regulating bone mineral density to ensure bones are less brittle by giving them the required strength. A mutation on this gene causes conditions that affect the bone density and retina development of human beings.
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LRP5 Gene Mutation
The essential work in the Wnt signaling pathway played by the LRP5 gene and the FZD4 receptors has been known to have adverse effects on human beings. A homozygous loss of function mutation on the gene results in osteoporosis-pseudoglioma syndrome that results in complications of eye development (Korvala et al., 2012). There are more than 40 LRP5 gene mutations that have been found in the gene resulting in the disorder. The gene expresses itself in an autosomal recessive pattern in both parents, thus being inherited by the child (NIH, 2020). Even in their childhood, these individuals have brittle bones that result from decreased bone mineral density.
Individuals with primary juvenile osteoporosis have at least five LRP5 gene mutations. The LRP5 gene mutations causing the condition result in a gene that is inept at conveying chemical signals through the Wnt signaling path (NIH, 2020). This results in reduced signaling that interferes with bone formation; thus, one gets osteoporosis at a young age. The gene inheritance for this condition occurs in an autosomal dominant pattern in the individual (NIH, 2020). The mutation results in affecting the chemical signaling that leads to the formation of brittle bones.
Individuals who have familial exudative vitreoretinopathy have been found to have more than 15 mutations on the LRP5 gene. These individuals have some amino acid building blocks changed while others have their genetic material either deleted or added (Korvala et al., 2012; NIH, 2020). The mutations on the gene are seen in an autosomal dominant pattern or autosomal recessive pattern from both parents with recessive genes (NIH, 2020). These changes affect the edges of the retina, which hinders the development of blood vessels. These individuals also have a reduced bone density, signaling that the mutation resulting in the disorder stems from the LRP5 gene.
An individual’s bone density and retina development are affected by the LRP5 gene found in the human body, which undergoes mutation to result in detrimental conditions. The LRP5 gene is expressed in an autosomal dominant pattern in primary juvenile osteoporosis or familial exudative vitreoretinopathy. It is also expressed in an autosomal recessive pattern in both parents, which results in the occurrence of familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome in the child through inheritance. The evolution of the LRP5 gene, therefore, causes detrimental effects to human beings.
References
Korvala, J., Jüppner, H., Mäkitie, O., Sochett, E., Schnabel, D., Mora, S., ... & Hartikka, H. (2012). Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC medical genetics, 13(1), 26.
NIH. (2020). LRP5 gene: LDL receptor related protein 5. Retrieved from https://ghr.nlm.nih.gov/gene/LRP5#normalfunction
