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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.
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This chapter begins with a discussion of the terminology used to describe inherited conditions, the prevalence of genetic disease, and some major principles and considerations in medical genetics. Important terms and key words used throughout the chapter are defined in Table 2–1.
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