AIP mutation in pituitary adenomas in the 18th century and today.

Abstract

Gigantism results when a growth hormone-secreting pituitary adenoma is present before epiphyseal fusion. In 1909, when Harvey Cushing examined the skeleton of an Irish patient who lived from 1761 to 1783, he noted an enlarged pituitary fossa. We extracted DNA from the patient's teeth and identified a germline mutation in the aryl hydrocarbon-interacting protein gene (AIP). Four contemporary Northern Irish families who presented with gigantism, acromegaly, or prolactinoma have the same mutation and haplotype associated with the mutated gene. Using coalescent theory, we infer that these persons share a common ancestor who lived about 57 to 66 generations earlier.

Links

Publisher Full Text

Authors

Chahal HS, Stals K, Unterländer M, Balding DJ, Thomas MG, Kumar AV, Besser GM, Atkinson AB, Morrison PJ, Howlett TA, Levy MJ, Orme SM, Akker SA, Abel RL, Grossman AB, Burger J, Ellard S, Korbonits M

Institution

Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, United Kingdom.

Source

The New England journal of medicine 364:1 2011 Jan 6 pg 43-50

MeSH

Acromegaly
Adenoma
Gigantism
Growth Hormone-Secreting Pituitary Adenoma
Haplotypes
Heterozygote
History, 18th Century
Humans
Intracellular Signaling Peptides and Proteins
Male
Microsatellite Repeats
Mutation
Pedigree
Pituitary Neoplasms
Prolactinoma
Sequence Analysis, DNA

Pub Type(s)

Historical Article
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21208107