Iron-deficiency Anemia Estimates by the World Health Organization are that 30% of the world’s population is anemic, and of these, half is due to the most common form of anemia, iron-deficiency anemia ( IDA ). IDA is the result of…
Cystic Fibrosis (Mucoviscidosis) and Aberrant Ion Transport A mutation in the gene for a chloride ion transporter gives rise to this disease. The transporter protein is called the cystic fibrosis transmembrane conductance regulator ( CFTR ). CFTR regulates the passage…
Prospects for Cytokine Tumor Necrosis Factor–Related Apoptosis-Inducing Ligand and Ovarian Cancer Among gynecological cancers , ovarian cancer causes more deaths than the others. One of the problems is that ovarian cancer is often diagnosed when it has already progressed to…
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,…