Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2
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Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2
CHAPTER 12The Molecular, Biochemical, and Cellular Basis of Genetic DiseaseIn this chapter, we extend our examination of the molecular and biochemical Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2l basis of genetic disease beyond the hemoglobinopathies to include other diseases and the abnormalities in gene and protein function that cause them. In Chapter 11, we presented an outline of the general mechanisms by which mutations cause disease (see Fig. 11-1) and reviewed the steps at which mut Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2ations can disrupt the synthesis or function of a protein (see Table 11-2). Those outlines provide a framework for understanding rhe pathogenesis of aEbook Thompson amp; Thompson genetics in medicine (8th edition): Part 2
ll genetic disease. However, mutations in other classes of proteins often disrupt cell and organ function by processes that differ from those illustraCHAPTER 12The Molecular, Biochemical, and Cellular Basis of Genetic DiseaseIn this chapter, we extend our examination of the molecular and biochemical Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2isorders such as phenylketonuria, cystic fibrosis, familial hypercholesterolemia, Duchenne muscular dystrophy, and Alzheimer disease. In some instances, less common disorders are included because they best demonstrate a specific principle. The importance of selecting representative disorders becomes Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2 apparent when one considers that to date, mutations in almost 3000 genes have been associated with a clinical phenotype. In the coming decade, one anEbook Thompson amp; Thompson genetics in medicine (8th edition): Part 2
ticipates that many more of the approximately 20,000 to 25.000 coding genes in the human genome will be shown to be associated with both monogenic andCHAPTER 12The Molecular, Biochemical, and Cellular Basis of Genetic DiseaseIn this chapter, we extend our examination of the molecular and biochemical Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2, some of which are presented in Figure 12-1. Mutations in virtually every functional class of protein can lead to genetic disorders. In this chapter, we describe important genetic diseases that affect representative proteins selected from the groups shown in Figure 12-1; many other of the proteins Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2listed, as well as the diseases associated with them, are described in the Cases section.Housekeeping Proteins and Specialty Proteins in Genetic DiseaEbook Thompson amp; Thompson genetics in medicine (8th edition): Part 2
seProteins can be separated into two general classes on the basis of their pattern of expression: housekeeping proteins, which are present in virtuallCHAPTER 12The Molecular, Biochemical, and Cellular Basis of Genetic DiseaseIn this chapter, we extend our examination of the molecular and biochemical Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2in only one or a limited number of cell types and have unique functions that contribute to the individuality of the cells in which they arc expressed. Most cell types in humans express 10,000 to 15,000 protein-coding genes. Knowledge of the tissues in which a protein IS expressed, particularly at hi Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2gh levels, is often useful in understanding the pathogenesis of a disease.Two broad generalizations can be made about the relationship between the sitEbook Thompson amp; Thompson genetics in medicine (8th edition): Part 2
e of a protein's expression and the site of disease.•First (and somewhat intuitively), mutation in a tissuespecific protein most often produces a diseCHAPTER 12The Molecular, Biochemical, and Cellular Basis of Genetic DiseaseIn this chapter, we extend our examination of the molecular and biochemical Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2ause abnormalities primarily in organs that do not express the protein at all; ironically, the tissue expressing the mutant protein may be left entirely unaffected by the pathological process. This situation is exemplified by phenylketonuria, discussed in depth in the next section. Phenylketonuria i Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2s due to the absence of phenylalanine hydroxylase (PAH) activity in the liver, but It is the brain (which expresses very little of this enzyme), and nEbook Thompson amp; Thompson genetics in medicine (8th edition): Part 2
ot rhe liver, that is damaged by the high blood levels of phenylalanine resulting from the lack of hepatic PAH. Consequently, one cannot necessarily iCHAPTER 12The Molecular, Biochemical, and Cellular Basis of Genetic DiseaseIn this chapter, we extend our examination of the molecular and biochemical Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2ousekeeping proteins arccxprcssed in most or all tissues, the clinical effects of mutations in housekeeping proteins arc frequently limited to one or just a few tissues, for at least two reasons. In215216THOMPSON & THOMPSON GENETICS IN MEDICINEORGANELLESOxidative phosphor/atton•ND1 protein of electr Ebook Thompson amp; Thompson genetics in medicine (8th edition): Part 2on transport Cham•(.•£♦.' hereditary optic neuropathy Translation of mitochondrial proteins•tRNAlEbook Thompson amp; Thompson genetics in medicine (8th edition): Part 2
enesis• 12 proteins- ZeiAveger syndromeLysosomal enzymes•Hexosaminidase A•Tay-Sachs cRseas*•a-i-iduronidase deficiency-Hurter syndromeEXTRACELLULAR PRCHAPTER 12The Molecular, Biochemical, and Cellular Basis of Genetic DiseaseIn this chapter, we extend our examination of the molecular and biochemicalCHAPTER 12The Molecular, Biochemical, and Cellular Basis of Genetic DiseaseIn this chapter, we extend our examination of the molecular and biochemicalGọi ngay
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