Genes direct production of proteins components of all living cells that carry out a wide variety of functions in the body. As well as documenting the presence of Fe65, Bressler and his colleagues have been investigating the function of Fe65 and have evidence that suggests it is involved in signal transduction-a process by which messages from outside the cell are communicated to the inside resulting in certain genes being turned on and certain genes being turned off. The study was prompted by identification of a new gene closely linked to the GC gene, whose mutation causes Gaucher disease. The researchers examined the hypothesis that the enzyme produced by the newly identified gene could influence activity of the GC gene and be related to the particular form of Gaucher disease marked by dementia. Results of the study indicate that the enzyme is not related to the defect that causes Gaucher disease, but instead functions in the mitochondria structures within cells that help to provide energy for cellular activity.
Receptors respond to chemical signals by starting or stopping particular activities within the cell.
Each brain cell has many different receptors and each receptor is activated by a distinct type of chemical. Previous studies have suggested that a certain receptor called p75, which is activated by a type of chemical known as nerve growth factor, is involved in the degeneration of brain cells in Alzheimer's disease. Based on this evidence, Dr. Mark Bothwell, professor of physiology and biophysics, is investigating p75 receptors and their relationship to cell death. A protein fragment known as beta amyloid is a major component of the plaques that clog the brain in Alzheimer's disease. The cause of this breakdown is unknown.