Currently viewing the tag: "mutation"
Muscular dystrophy is the term given to a group of hereditary muscular disorders which cause wasting and weakening of the muscles. The disorders typically arise due to defects in muscle proteins which lead to the untimely death of multiple muscle cells causing progressive muscle weakness.
Phenylketonuria (PKU) became a recognised clinical condition in 1934 when Norwegian physician Ivar Asbjørn Følling identified a link between mental retardation and elevated levels of phenylalanine (hyperphenylalaninemia). The elevated levels of phenylalanine (Phe) was a recognised consequence of a deficiency of the enzyme phenylalanine hydroxylase (PAH).
Inherited defects in the make up of enzymes, receptors, transporters and structural proteins can all contribute to the rise of metabolic disorders. These disorders can arise from single mistakes in a gene and if not dealt with quickly, can prove fatal. Because of this, many are tested for at birth or shortly after and such disorders are now commonly known as congenital metabolic diseases or inherited metabolic diseases.
Point Mutations
Much like humans, bacteria are subject to evolution. Evolution occurs through beneficial mutations in the DNA. Because bacteria have much shorter generation times than humans, the process of evolution occurs much more rapidly. An example of how bacteria evolve through mutation is point mutation.
Point mutation is the random mutation of DNA nucleotides [...]
