CLINICAL APPLICATIONS

This icon signals the start of a clinical application in the text. Additional, briefer clinical correlations appear in the text as appropriate.

Osteogenesis imperfecta

Protein-misfolding diseases

Protein modification and scurvy

Antigen/antibody detection with ELISA

Synthetic peptides as drugs

PCR in diagnostics and forensics

Gene therapy

Aptamers in biotechnology and medicine

Functional magnetic resonance imaging

2,3-BPG and fetal hemoglobin

Carbon monoxide poisoning

Sickle-cell anemia

Thalassemia

Aldehyde dehydrogenase deficiency

Action of penicillin

Protease inhibitors

Carbonic anhydrase and osteopetrosis

Isozymes as a sign of tissue damage

Trypsin inhibitor helps prevent pancreatic damage

Emphysema

Blood clotting involves a cascade of zymogen activations

Vitamin K

Antithrombin and hemorrhage

Hemophilia

Monitoring changes in glycosylated hemoglobin

Erythropoietin

Hurler disease

Mucins

Blood groups

I-cell disease

Influenza virus binding

Clinical applications of liposomes

Aspirin and ibuprofen

Digitalis and congestive heart failure

Multidrug resistance

Long QT syndrome

Signal-transduction pathways and cancer

Monoclonal antibodies as anticancer drugs

Protein kinase inhibitors as anticancer drugs

G-proteins, cholera and whooping cough

Vitamins

Triose phosphate isomerase deficiency

Excessive fructose consumption

Lactose intolerance

Galactosemia

Aerobic glycolysis and cancer

Phosphatase deficiency

Defects in the citric acid cycle and the development of cancer

Beriberi and mercury poisoning

Frataxin mutations cause Friedreich’s ataxia

Reactive oxygen species (ROS) are implicated in a variety of diseases

ROS may be important in signal transduction

IF1 overexpression and cancer

Brown adipose tissue

Mild uncouplers sought as drugs

Mitochondrial diseases

Glucose 6-phosphate dehydrogenase deficiency causes drug-induced hemolytic anemia

Glucose 6-phosphate dehydrogenase deficiency protects against malaria

Developing drugs for type 2 diabetes

Glycogen-storage diseases

Chanarin-Dorfman syndrome

Carnitine deficiency

Zellweger syndrome

Diabetic ketosis

Ketogenic diets to treat epilepsy

Some fatty acids may contribute to pathological conditions

The use of fatty acid synthase inhibitors as drugs

Effects of aspirin on signaling pathways

Diseases resulting from defects in transporters of amino acids

Diseases resulting from defects in E3 proteins

Drugs target the ubiquitin-proteasome system

Using proteasome inhibitors to treat tuberculosis

Blood levels of aminotransferases indicate liver damage

Inherited defects of the urea cycle (hyperammonemia)

Alcaptonuria, maple syrup urine disease, and phenylketonuria

xii

High homocysteine levels and vascular disease

Inherited disorders of porphyrin metabolism

Anticancer drugs that block the synthesis of thymidylate

Ribonucleotide reductase is a target for cancer therapy

Adenosine deaminase and severe combined immunodeficiency

Gout

Lesch–Nyhan syndrome

Folic acid and spina bifida

Enzyme activation in some cancers to generate phosphocholine

Excess choline and heart disease

Gangliosides and cholera

Second messengers derived from sphingolipids and diabetes

Respiratory distress syndrome and Tay–Sachs disease

Ceramide metabolism stimulates tumor growth

Phosphatidic acid phosphatase and lipodystrophy

Hypercholesterolemia and atherosclerosis

Mutations in the LDL receptor

LDL receptor cycling is regulated

The role of HDL in protecting against arteriosclerosis

Clinical management of cholesterol levels

Bile salts are derivatives of cholesterol

The cytochrome P450 system is protective

A new protease inhibitor also inhibits a cytochrome P450 enzyme

Aromatase inhibitors in the treatment of breast and ovarian cancer

Rickets and vitamin D

Caloric homeostasis is a means of regulating body weight

The brain plays a key role in caloric homeostasis

Diabetes is a common metabolic disease often resulting from obesity

Exercise beneficially alters the biochemistry of cells

Food intake and starvation induce metabolic changes

Ethanol alters energy metabolism in the liver

Antibiotics that target DNA gyrase

Blocking telomerase to treat cancer

Huntington disease

Defective repair of DNA and cancer

Detection of carcinogens (Ames test)

Translocations can result in diseases

Antibiotic inhibitors of transcription

Burkitt lymphoma and B-cell leukemia

Diseases of defective RNA splicing

Vanishing white matter disease

Antibiotics that inhibit protein synthesis

Diphtheria

Ricin, a lethal protein-synthesis inhibitor

Induced pluripotent stem cells

Anabolic steroids

Color blindness

The use of capsaicin in pain management

Immune-system suppressants

MHC and transplantation rejection

AIDS

Autoimmune diseases

Immune system and cancer

Vaccines

Charcot-Marie-Tooth disease

Taxol

xiii