Pathophysiology

Pathophysiology Study Guide

©2018 of 131 infected cell to other parts. These abnormal intercellular accumulations are likely to have some pathways. The first pathway could be a low metabolic rate, which is ineffective to remove the natural substance produced at a normal or accelerated rate. Development of fatty changes in the liver is caused by the accumulation of triglycerides within the parenchymal cells. The second pathway is protein mutation, which, due to genetic defects, is developed by the accumulation of normal or abnormal substances and is caused by defective folding and transportation. Tay-Sachs, for example, is the loss of enzymes (due to genetic disorders) and causes an accumulation of fatty substances in the nervous system. The next pathway is storage diseases, in which the enzyme has an inherited defect that doesn’t all the metabolite to degrade. Abnormalities of glycogen or glucose can lead to excessive intracellular deposits of glycogen. Glycogen also accumulates within the cell due to genetic disorders, and can leads to glycogenosis. The next pathway is from a lack of enzymatic machinery, which leads to an inability to degrade the abnormal exogenous transporting it to other sites. Hereditary hemochromatosis, for instance, leads to excessive deposits of iron, which has the potential to damage major tissues in the body. This can lead to liver fibrosis, heart failure, and diabetes mellitus. 1.3 Genetic Disorders Genetic disorders are referred to as the presence of diseases due to alteration in DNA. Alterations have the potential to influence the bases of DNA, characterized as A (adenine), C (cytosine), G (guanine), and T (thymine). Alterations are also characterized by chromosomes. Proteins in the body are developed with the help of the codes provided by DNA and when there are any changes in this DNA, these proteins are also affected, which affects the normal functioning of the body. Genetic disorders are caused by chromosomal abnormalities or mutations. Chromosomal Abnormalities Chromosomal abnormalities are genetic disorders that are formed either due to structural or numerical defects. These defects are caused when chromosomes are missing or when chromosomes are not arranged properly. These defects are likely to cause different birth defects, which can range from mild to severe. A normal chromosome complement consists of 46 chromosomes, known as diploid, double of euploid, or a gamete complement of 23 chromosomes. Whenever there is an extra copy of a particular chromosome present, or a trisomy, it refers to aneuploidy. These chromosomal abnormalities have the potential to cause stillbirth or miscarriages. Down syndrome is one of the most common chromosomal abnormalities, and is associated with chromosome 21. There are three kinds of down syndromes. Trisomy 21 is the most common kind of down syndrome in which one extra copy of chromosome 21 is inherited by the cell. This defect usually Achieve Page 14

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