RT Book, Section A1 Barsh, Gregory A2 Hammer, Gary D. A2 McPhee, Stephen J. SR Print(0) ID 1100857154 T1 Genetic Disease T2 Pathophysiology of Disease: An Introduction to Clinical Medicine, 7e YR 2013 FD 2013 PB McGraw-Hill Education PP New York, NY SN 978-0-07-180600-8 LK accessmedicine.mhmedical.com/content.aspx?aid=1100857154 RD 2024/03/28 AB Mechanisms of cellular and tissue dysfunction in genetic diseases are as varied as the organs they affect. To some extent, these mechanisms are similar to those that occur in nonheritable disorders. For example, a fracture resulting from decreased bone density in osteoporosis heals in much the same way as one caused by a defective collagen gene in osteogenesis imperfecta, and the response to coronary atherosclerosis in most individuals does not depend on whether they have inherited a defective low-density lipoprotein (LDL) receptor. Thus, the pathophysiologic principles that distinguish genetic disease focus not so much on the affected organ system as on the mechanisms of mutation, inheritance, and molecular pathways from genotype to phenotype.