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The role of clinical pharmacology in molecular genetics
1Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232-2195, USA.
Problem:
Discovering the causes of unusual phenotypes in human subjects is an important aspect of patient-oriented research.
Material:
The tools of clinical pharmacology are uniquely useful in addressing these problems. PATIENTS, SUBJECTS, OR CASE HISTORIES: We evaluated a 42-year-old patient with lifelong orthostatic hypotension and ptosis of the eyelids. He underwent a series of biochemical, physiological, and pharmacological tests outlined in this article.
Results:
These studies indicated that sympathetic innervation was intact but that the sympathetic neurotransmitter was dopamine rather than norepinephrine. These results demonstrated that dopamine-beta-hydroxylase deficiency underlies the clinical abnormalities of this patient.
Conclusion:
In selected individuals with unusual phenotypes, the techniques of clinical chemistry and clinical pharmacology can define the nature of the defect at almost the resolution of the human genome.