Biochemical Defects: Their Role in Human Disease
Biochemical defects, or biochemical abnormalities, are changes in the intrinsic biochemical makeup of cells, tissues, and organs that lead to pathological changes and diseases. These abnormalities can be caused by genetic mutations, environmental factors, or a combination of both. In humans, many diseases are caused by biochemical defects including cancer, diabetes, and heart disease.
The biochemical makeup of a cell is determined by the composition of its proteins, carbohydrates, lipids, and other molecules. Abnormalities in these molecules can cause biochemical defects. One example of a biochemical defect is an enzyme deficiency, in which the body lacks a specific enzyme or the enzyme is not functioning properly. Enzymes are proteins that help to regulate metabolic processes, and deficiencies can lead to disease. For example, in phenylketonuria (PKU) a deficiency of the enzyme phenylalanine hydroxylase leads to the accumulation of phenylalanine in the blood, causing mental and physical impairment.
Another type of biochemical defect is a mutation in the genetic code. Mutations can cause an enzyme to become non-functional or can cause the gene to produce an abnormal protein. For example, sickle cell anemia is caused by a mutation in the β-globin gene, which results in the production of an abnormal hemoglobin protein. This abnormal hemoglobin causes the red blood cells to become sickle-shaped, leading to anemia, weakness, and pain.
Environmental factors can also cause biochemical defects. Exposure to radiation, chemicals, and toxins can damage DNA or disrupt enzymatic activity. For example, the toxic metal cadmium can cause anemia by inhibiting the function of enzymes involved in iron metabolism.
Biochemical defects are associated with many human diseases, and understanding the biochemical basis of these diseases is essential for developing effective treatments. For example, cancer is caused by defects in the DNA that lead to uncontrolled cell growth. By understanding the molecular basis of these defects, scientists can develop targeted therapies that block the pathways involved in tumor growth. Similarly, understanding the biochemical defects responsible for diabetes and heart disease can help to develop new treatments for these diseases.
In conclusion, biochemical defects are changes in the biochemical makeup of cells, tissues, and organs that can lead to disease. Defects can be caused by genetic mutations, environmental factors, or a combination of both. Understanding the biochemical basis of disease is essential for developing effective treatments, and advances in biochemistry and molecular biology have greatly improved our understanding of these defects and their roles in human disease.
References
Grantham-McGregor, S. M., & Ani, C. (2001). A review of studies on the effects of iron deficiency on cognitive development in children. The Journal of Nutrition, 131(2), 649–666.
Karim, A., & Rose, S. P. (2013). Sickle cell anemia: An overview. Advances in Hematology, 2013, 1–11.
Kirk, G. M., & White, J. M. (2012). Cadmium toxicity and its effects on human health. Critical Reviews in Food Science and Nutrition, 52(9), 794–806.
Kumar, V., Abbas, A. K., & Aster, J. C. (2015). Robbins and Cotran Pathologic Basis of Disease (9th ed.). Philadelphia, PA: Elsevier.
Liu, Y., & Zheng, W. (2018). Phenylketonuria: An update on molecular basis, diagnosis and treatment. Molecules, 23(9), 2277.