Hereditary multiple exostoses: clinicopathologic features of a comparative study in horses and man.
Abstract: Investigation of hereditary multiple exostoses in horses under controlled research conditions for 10 years and epidemiologic studies that have spanned up to five generations of human families contain notable similarities. The present study demonstrated that a single dominant autosomal gene is responsible for hereditary multiple exostoses in horses and man. Affected individuals transmit this trait to approximately 50% of their progeny, whereas nonaffected individuals do not transmit the condition to their offspring. The tumors in affected horses are most often present at birth. They tend to be bilaterally symmetrical and vary in size, shape, and texture. Those on the legs generally do not appear to enlarge as the animal matures, but others, notably those on the ribs and scapulae, enlarge until skeletal maturity, Histologically, the tumors appear as typical ostosteochondromas in both horse and man. Sarcomatous transformations have not yet been detected after 10 years in horses, although such changes are occasionally reported in the similar disease condition in man. The remarkable similarities of hereditary multiple exostoses in the horse to that in man provide an opportunity for comparative biomedical study.
Publication Date: 1979-06-01 PubMed ID: 314250
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- Comparative Study
- Journal Article
Summary
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The research investigates into the hereditary multiple exostoses (HME) in humans and horses, indicating the same single dominant autosomal gene responsible for the condition in both species. The study also draws attention to the similarities in the physical attributes of the condition across the two species.
Research Background and Objective
- The research aims to study the condition HME, a genetic disease that causes multiple bone tumors, in humans and horses over a ten-year period.
- The objective is to understand the genetic links between HME in humans and horses and the similarities in disease presentation.
Methodology and Findings
- The researchers have examined the disease development under controlled conditions in horses for the span of 10 years while using epidemiological data spanning five human generations.
- The study found that the same dominant autosomal gene caused HME in both species. This gene can be passed from affected parents to approximately 50% of their offspring. In contrast, unaffected individuals do not transmit this condition to their children.
Physical Characteristics of the Disease
- In horses, these bone tumor formations often appear at birth and display bilateral symmetry while varying in size, shape, and texture. Most of these tumors do not enlarge as the animal matures, especially those located on legs.
- Other tumors, notably those on the ribs and scapulae, continue to grow until skeletal maturity is achieved.
- Similar physical manifestations of these ostosteochondromas are observed in both humans and horses.
Disease Progression and Potential for Comparative Study
- The study notes that sarcomatous transformations, though occasionally reported in humans with HME, have not been observed in horses after a decade-long analysis.
- The similar hereditary and physical characteristics of HME in humans and horses present potential for further comparative biomedical research. Such studies could provide valuable insights into the disease’s genetic foundations and progression and may open pathways for developing treatment strategies.
Cite This Article
APA
Shupe JL, Leone NC, Olson AE, Gardner EJ.
(1979).
Hereditary multiple exostoses: clinicopathologic features of a comparative study in horses and man.
Am J Vet Res, 40(6), 751-757.
Publication
Researcher Affiliations
MeSH Terms
- Animals
- Exostoses, Multiple Hereditary / genetics
- Exostoses, Multiple Hereditary / pathology
- Exostoses, Multiple Hereditary / veterinary
- Horse Diseases / genetics
- Horse Diseases / pathology
- Horses
- Humans
- Ribs / pathology
- Scapula / pathology
Citations
This article has been cited 3 times.- Ruan W, Cao L, Chen Z, Kong M, Bi Q. Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma. Oncol Lett 2018 Apr;15(4):4383-4389.
- Shupe JL, Leone NC, Gardner EJ, Olson AE. Hereditary multiple exostoses. Hereditary multiple exostoses in horses. Am J Pathol 1981 Sep;104(3):285-8.
- Hennekam RC. Hereditary multiple exostoses. J Med Genet 1991 Apr;28(4):262-6.
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