Genomic Endocrinology

Genetic mapping was used to search for causal mutations of diseases that run in families and are inherited by the principles of Mendel. These Mendelian diseases, also called monogenetic disorders, are caused by a mutation in a single gene. Duchenne muscular dystrophy is an example of a Mendelian disease. The disorder is caused by a mutation in the gene DMD, which encodes for the protein dystrophin, an important structural component within muscle tissue. Due to a single gene mutation the protein is not produced adequately, leading to the severely disabling phenotype of Duchenne. In contrast to Mendelian diseases, complex diseases are disorders in which the cause is considered to be a combination of several genetic effects and environmental influences. For example, type 1 and 2 diabetes, diabetic nephropathy and cardiovascular disease are such complex diseases.

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