OrganismHomo sapiens
Aging PhenotypeShortened life-span
Allele TypeDeletion
DescriptionMean life-span in 11 untreated, affected individuals homozygous for a deletion at the GH-1 locus was significantly shorter (P < 0.05) than in unaffected siblings or the general population (Besson et al., 2003).
Gene FunctionHuman growth hormone.
Other PhenotypesIndividuals homozygous for the GH-1 deletion demonstrate hereditary dwarfism (Besson et al., 2003).
The short life-span of humans defective for GH production is different from mutations that decrease growth hormone signaling and cause dwarfism in rodents, which have been generally found to increase life-span (e.g. see GH, GHR, and Ghrhr).
Primary ReferenceBesson, A., S. Salemi, S. Gallati, A. Jenal, R. Horn et al., 2003 Reduced longevity in untreated patients with isolated growth hormone deficiency. J Clin Endocrinol Metab 88: 3664-3667. [Abstract]
Other References
Relevant LinksOMIM:
Keywordshormonal, signaling, insulin, dwarf, rat, mouse, pituitary, mouse