Steroid hormones play a major role in bodily functioning because they are required for many critical physiological processes, including survival of stress, injury (and illness), metabolism, inflammation, salt and water balance, immune functions, and development of sexual characteristics. Notably, the…
Panhypopituitarism: Malfunction of the Hypothalamus–Pituitary–End Organ Axis The pituitary is the source of several hormones that control many essential terminal hormonal functions. These include signals from the anterior pituitary that governs the stress hormone, cortisol from the adrenal cortex, the…
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…
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…
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…
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…
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,…
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…
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…
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…