Advances in the field of genetics have revolutionized our understanding of genetic disorders. Caused by alterations in DNA sequences, genetic disorders can have lifelong effects on an individual’s health and well-being. For decades, genetic research has focused on the study of DNA, but recently, scientists have shifted their efforts to researching proteins. Proteomics, the study of the structure and function of an individual’s proteins, offers a new perspective in identifying, understanding, and treating genetic disorders (CDC). This article explores the significance and potential of proteomics, as well as its ability to treat genetic disorders.
Understanding Genetic Disorders
A genetic disorder is the result of a gene variant, a permanent change in the DNA sequence of an individual. Genetic mutations can lead to changes in the structure and function of proteins which are responsible for the biological processes in the cell. By changing a gene’s instructions for making a protein, a mutation can cause a protein to malfunction and prevent it from working properly. This can lead to health conditions and irregular development.
From Genomics to Protemoics
Until recently, most genetic disorders were studied through DNA sequencing, which provided information about the changes in a gene that may cause disease. However, knowing the presence of a mutation does not provide a complete understanding of the disorder itself. In order to truly understand the disorder, scientists needed to understand how these mutations affect protein structure and function. By using proteomics, scientists can identify the expression of a protein at different levels, providing deep insights into disease mechanisms, cellular functions, and biomarker discovery.
Role of Protemmics in Treating Genetic Disorders
Proteomics allows researchers to study the connection between genetic mutations and how they impact protein synthesis and function. By using advanced proteomic techniques, scientists can identify specific proteins affected by genetic mutations and analyze tissue and biological fluids. This research will not only help us understand the impact of genetic disorders, but also identify and monitor drugs and biomarkers, an assessable pointer of a normal or abnormal biological state in the body. In addition to discovering biomarkers, proteomics can be used to compare the protein expressions in normal and diseased cells, such as tumor tissues and bodily fluids. Scientists can use proteomics to understand the function and interactions of proteins and create more effective treatments for patients.
Additional Example
In 2015, the Proteomics Research Center of Shahid Beheshti University of Medical Sciences injected the proteins in beta-amyloid into a group of rats’ hippocampuses treated with Lavandula angustifolia. Using proteomic techniques, the study aimed to understand the impact of lavender on Alzheimer’s disease and learn more about beta-amyloid, a peptide composed of amino acids that forms amyloid plaques found in the brains of individuals with Alzhemier’s disease. The study showed that lavender extract improves spatial performance in rats by reducing beta-amyloid production in the hippocampus. In response to the effective components of lavender extract, these proteins as potential drug targets have therapeutic properties for the treatment of Alzhemiers and other genetic disorders.
References
Adams, D. (n.d.). DNA sequencing. Genome.gov. Retrieved July 31, 2023, from https://www.genome.gov/genetics-glossary/DNA-Sequencing
Chantada-Vázquez, M. D. P., Bravo, S. B., Barbosa-Gouveia, S., Alvarez, J. V., & Couce, M. L. (2022). Proteomics in inherited metabolic disorders. International Journal of Molecular Sciences, 23(23), 14744. https://doi.org/10.3390/ijms232314744
From Genomics to Proteomics— What’s the Impact on Population Health? (n.d.). Cdc.gov. Retrieved July 31, 2023, from https://blogs.cdc.gov/genomics/2022/09/30/from-genomics-to-proteomics/
How can gene variants affect health and development? (n.d.). Medlineplus.gov. Retrieved July 31, 2023, from https://medlineplus.gov/genetics/understanding/mutationsanddisorders/mutationscausedisease/
Zali, H., Zamanian-Azodi, M., Rezaei Tavirani, M., & Akbar-Zadeh Baghban, A. (2015). Protein Drug Targets of Lavandula angustifolia on treatment of Rat Alzheimer’s Disease. Iranian Journal of Pharmaceutical Research: IJPR, 14(1), 291–302.
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