Gaucher’s Disease: Most Common Lipid Storage Disease This is an autosomal recessive disease resulting from a mutation in the gene for glucocerebrosidase . The genetic mutation is received from both parents as shown in Fig. 14.1 . As shown in the fourth panel of the figure ( lower left ), when both parents are carriers but do not exhibit the overt disease, one in four offsprings…

Urea Cycle–Related Disease: Hyperammonemia The urea cycle is one of the metabolic pathways that will be discussed in this chapter. The urea cycle eliminates unneeded nitrogen, derived from nitrogen-containing compounds, from the body in the form of urea. Many amino acids can be converted to glutamate that can, in turn, be converted to aspartate . Aspartate can enter the urea cycle to produce urea for excretion…

Congenital Heart Disease: Mutations of Transcription Factors Normal Heart Development The progenitor cells for mammalian heart development are located in the anterior lateral plate mesoderm. At about day 15 of human embryonic development, the progenitor cells condense into two lateral heart primordia. These include lineage precursors for the myocardial and endocardial lineages. At 3 weeks of human development, the cardiac precursors move toward the center, forming…

Defects in Mitochondrial Oxidative Phosphorylation and Disease: Deficiency in Mitochondrial Translation There are 13 proteins encoded by the mitochondrial genome (mitochondrial DNA) that comprise the respiratory chain (Fig. 14.19) located in the inner mitochondrial membrane. About 150 different proteins are required for the translation of these 13 respiratory chain proteins. Translation deficiencies caused by nuclear gene mutations generate mutations in transfer RNA (tRNA), ribosomal RNA (rRNA),…

Huntington’s Disease, A Single-Gene Mutation There are 4000 or more human diseases caused by a single-gene mutation. Huntington’s disease is an example of an autosomal dominant disease . There are many others like this: Marfan syndrome, neurofibromatosis, retinoblastoma, myotonic dystrophy, familial hypercholesterolemia, adult polycystic kidney disease, familial adenomatous polyposis, hypertrophic obstructive cardiomyopathy , and osteogenesis imperfecta to name a few. In autosomal recessive diseases , one…

Hypercholesterolemia Cholesterol , a critical structural element, comprises about 25% of the cell membrane and occurs in an equal proportion to phospholipid constituents (Fig. 2.7). It provides some rigidity to an otherwise completely flexible membranous structure. Its presence in the membrane facilitates the diffusion of nonpolar molecules. Cholesterol is essential to life. However, disease situations occur when blood cholesterol cannot be handled properly, that is, when…

Hemolytic Anemia: Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency (A Rare Disease) Hemolytic Anemia In the process of its maturation, the red blood cell ( RBC ) eliminates many of its subcellular structures, including the cell nucleus, mitochondria, endoplasmic reticulum, and Golgi apparatus to maximize storage capacity for hemoglobin ( Hb ). Because of the lack of mitochondria for oxidative metabolism, the RBC is dependent on glycolysis for its energy…

Glycogen Storage Disease Type I, von Gierke Disease (and Others: At Least 11 Types of Glycogen Storage Disease) This disease occurs as a result of an inherited deficiency of an enzyme involved in the synthesis or breakdown of glycogen, the storage form of glucose. Glycogen is formed primarily in the liver and muscle and, secondarily, in many other tissues as well. There are a variety of…

Diabetes Diabetes was recognized as early as 1500 BCE. Diabetes is a disease in which glucose cannot be utilized properly. There are basically two types of diabetes. Type 1 diabetes occurs, typically in the young, when the β-cells of the pancreas have been destroyed (by viruses or autoimmunity or both) so that insulin secretion cannot take place when the glucose level in the blood is high.…

Diagnostic Enzymology The principle of diagnostic enzymology is that various disease conditions cause increased cell membrane permeability to macromolecules or outright lysis of the cell membrane that allow macromolecules, dissolved in the cytoplasm, to leak into the extracellular space and gain access to the bloodstream. This permits assay of enzyme activity directly (including immune reaction) that would identify abnormally high levels in blood. Some of these…

Prion Disease, A Disease of Protein Conformational Change The prion diseases in man are Creutzfeldt–Jakob, Gerstmann–Straussler–Scheinker syndrome, fatal familial insomnia, kuru, and Alpers syndrome. Creutzfeldt–Jakob disease (CJD) is of interest, especially in view of the outbreak in Britain of the mad cow disease (bovine spongiform encephalopathy). Other important prion diseases of animals are chronic wasting disease in mule deer and elk and scrapie in sheep. These…

Knowledge concerning water, pH, and buffers is basic for the study of biological systems. Some general features of receptors, channels, and pumps are critical to the understanding of cellular biochemistry because the human body is made up of separate organs and tissues, and for it to function, these parts of the body are interdependent and need to be able to communicate. Intercellular communication from one organ…

Cellular Trafficking in Alzheimer’s Disease According to the Alzheimer’s Association, it is estimated in 2014 that about 5.2 million Americans have Alzheimer’s disease (AD). Of these, about 200,000 are below the age of 65. It is projected that by 2050, unless there is a future effective treatment, there may be about 16 million individuals who are 65 or older who have AD. The annual death rate…

Treatment of the Injured Knee: Use of Stem Cells to Replace Damaged Cartilage In the human body the knee, as it supports the entire body weight, is susceptible not only to acute injury but also, in particular, to the development of chronic osteoarthritis. Osteoarthritis can be defined as the degeneration of joint cartilage and the bone beneath it, and it occurs in any joint, especially in…