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"Molecular Medicine"
The body consists of many types of specialised cells, from gametes to blood cells, each different cell type having a specific function. In contrast to specialised cells are unspecialised cells, known as stem cells. Because of the unique abilities of stem cells as opposed to a typical somatic cell, they are currently the target of ongoing research. Multiple areas of research are looking into how stem cells can offer new ways of treating disease, such as diabetes or heart disease – a field of medicine known as cell-based therapy or regenerative medicine.
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.
Insulin resistance is a subnormal biological response of the body to insulin, i.e. a reduced reduced response to the presence of insulin. As a result insulin becomes less effective at reducing blood sugar, increased blood sugar levels can have an adverse impact on health.
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.
