Genetic Basis of Autonomic Dysfunction

ABSTRACT

The human genome has become a roadmap for elucidation of the pathophysiology of disease. It is likely that mutations in more than 1000 of the ~30,000 human genes will lead to autonomic abnormalities, either directly or indirectly. This review highlights some of these, which exert major effects on catecholamine metabolism and relate specific catecholaminergic phenotypes to neurogenetic disorders. Distinctive catecholamine patterns in several neurogenetic conditions may reflect direct or indirect effects of gene mutations. These neurochemical patterns can provide potentially important clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.

KEYWORDS

NET - DBH - MAO - genetic - catecholamine disorders - dysautonomia

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