Connective tissue disorders in domestic animals.
Abstract: Though soft tissue disorders have been recognized and described to some detail in several types of domestic animals and small mammals for some years, not much progress has been made in our understanding of the biochemical basis and pathogenesis of these diseases in animals. Ehlers-Danlos syndrome described in dogs already in 1943 and later in cats affects mainly skin in these animals. The involved skin is thin and hyperextensible with easily inflicted injuries resulting in hemorrhagic wounds and atrophic scars. Joint laxity and dislocation common in people are less frequently found in dogs. No systemic complications, such as organ rupture or cardiovascular problems which have devastating consequences in people have been described in cats and dogs. The diagnosis is based on clinical presentation and on light or electron microscopic features of disorganized and fragmented collagen fibrils. Several cases of bovine and ovine dermatosparaxis analogous to human Ehlers-Danlos syndrome type VIIC were found to be caused by mutations in the procollagen I N-proteinase (pnPI) or ADAMTS2 gene, though mutations in other sites are likely responsible for other types of dermatosparaxis. Cattle suffering from a form of Marfan syndrome were described to have aortic dilatation and aneurysm together with ocular abnormalities and skeletal involvement. As in people mutations at different sites of bovine FBN1 may be responsible for Marfan phenotype. Hereditary equine regional dermal asthenia (HERDA), or hyperelastosis cutis, has been recognized in several horse breeds as affecting primarily skin, and, occasionally, tendons. A mutation in cyclophilin B, a chaperon involved in proper folding of collagens, has been identified in some cases. Degenerative suspensory ligament desmitis (DSLD) affects primarily tendons and ligaments of certain horse breeds. New data from our laboratory showed excessive accumulation of proteoglycans in organs with high content of connective tissues. We have identified an abnormal form of decorin with altered biological activity in these proteoglycan deposits, and more recently changes in processing of aggrecan were found by us and other investigators.The naturally occurring diseases of soft tissues in domestic animals described here have a potential to serve as good models for analogous human diseases. This is the case particularly relevant to dogs as a half out of the more than 400 naturally occurring hereditary canine diseases has the potential to serve as a model for human disease.
Publication Date: 2014-01-21 PubMed ID: 24443030DOI: 10.1007/978-94-007-7893-1_14Google Scholar: Lookup
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Summary
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This research article focuses on the various connective tissue disorders in domestic animals like dogs, cats, horses, cattle, and sheep. It studies the low prevalence of these diseases, the lack of advancements in diagnosis and understanding, and reviews some known diseases like Ehlers-Danlos syndrome in dogs and cats, Marfan syndrome in cattle, and dermatosparaxis in cows and sheep.
Connective Tissue Disorders in Domestic Animals
- The researchers present a detailed study on various connective tissue disorders that affect domestic animals like dogs, cats, horses, and several small mammals. The focus of this study includes diseases like Ehlers-Danlos syndrome (EDS), dermatosparaxis, Marfan syndrome (MFS), Hereditary equine regional dermal asthenia (HERDA), and Degenerative suspensory ligament desmitis (DSLD).
Ehlers-Danlos Syndrome (EDS) in Dogs and Cats
- The syndrome was already described in dogs in 1943 and later in cats. Signs of the syndrome include thin, hyperextensible skin that easily succumbs to injuries, leading to hemorrhagic wounds and atrophic scars. Systemic complications like organ rupture or cardiovascular problems common in humans have not been observed in cats and dogs suffering from EDS.
- The diagnosis of EDS in animals involves checking for disorganized and fragmented collagen fibrils using light or electron microscopy, in addition to the clinical presentation.
Dermatosparaxis in Bovine and Ovine
- Dermatosparaxis, analogous to EDS type VIIC in humans, is found in cattle and sheep. It is caused by mutations in the procollagen I N-proteinase (pnPI) or ADAMTS2 gene, although the researchers suggest that there might be other culprits for different types of dermatosparaxis.
Marfan Syndrome (MFS) in Cattle
- Cattle suffering from MFS have been observed to have aortic dilatation and aneurysm, along with ocular abnormalities and skeletal involvement. Similar to human Marfan syndrome, mutations in different sites of bovine FBN1 might be responsible for the Marfan phenotype.
Hereditary Equine Regional Dermal Asthenia (HERDA) in Horses
- HERDA, also known as hyperelastosis cutis, primarily affects the horse’s skin and occasionally tendons. In some cases, a mutation in the cyclophilin B gene has been identified.
Warmblood Fragile Foal Syndrome (WFFS) In Horses
- WFFS is another disorder that is similar to Ehlers-Danlos syndrome, which majorly affects Warmblood horses, leading to skin fragility and joint hyperextensibility.
Degenerative Suspensory Ligament Desmitis (DSLD) in Horses
- The DSLD is a disease that affects mainly the tendons and ligaments of certain horse breeds. The research carried out in the laboratory showed excessive accumulation of proteoglycans in organs with high content of connective tissues. Increased presence of bone morphogenetic protein 2 (BMP2) in active foci of DSLD and an abnormal form of decorin in proteoglycan deposits were found.
- The researchers also used next-generation sequencing to identify disturbances in the expression of genes for numerous proteoglycans and collagens.
Cite This Article
APA
Halper J.
(2014).
Connective tissue disorders in domestic animals.
Adv Exp Med Biol, 802, 231-240.
https://doi.org/10.1007/978-94-007-7893-1_14 Publication
Researcher Affiliations
- Department of Pathology, College of Veterinary Medicine and Medical Partnership, The University of Georgia, Athens, GA, 30602-7388, USA, jhalper@uga.edu.
MeSH Terms
- ADAM Proteins / genetics
- Animals
- Animals, Domestic
- Cats
- Cattle
- Collagen / genetics
- Dogs
- Ehlers-Danlos Syndrome / genetics
- Ehlers-Danlos Syndrome / pathology
- Ehlers-Danlos Syndrome / veterinary
- Horses
- Marfan Syndrome / genetics
- Marfan Syndrome / pathology
- Marfan Syndrome / veterinary
- Mutation
- Procollagen N-Endopeptidase / genetics
- Proteoglycans / genetics
- Sheep
- Skin / metabolism
- Skin / pathology
Citations
This article has been cited 7 times.- Jiang Y, Jia P, Feng X, Zhang D. Marfan syndrome: insights from animal models. Front Genet 2024;15:1463318.
- Bullock G, Jaffey JA, Cohn LA, Sox E, Hostnik ET, Hutcheson KD, Matero E, Hoffmann KS, Johnson GS, Katz ML. Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome. J Vet Intern Med 2024 Sep-Oct;38(5):2431-2443.
- Reiter S, Wallner B, Brem G, Haring E, Hoelzle L, Stefaniuk-Szmukier M, Długosz B, Piórkowska K, Ropka-Molik K, Malvick J, Penedo MCT, Bellone RR. Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States. Genes (Basel) 2020 Dec 18;11(12).
- Haythorn A, Young M, Stanton J, Zhang J, Mueller POE, Halper J. Differential gene expression in skin RNA of horses affected with degenerative suspensory ligament desmitis. J Orthop Surg Res 2020 Oct 7;15(1):460.
- Pechanec MY, Boyd TN, Baar K, Mienaltowski MJ. Adding exogenous biglycan or decorin improves tendon formation for equine peritenon and tendon proper cells in vitro. BMC Musculoskelet Disord 2020 Sep 23;21(1):627.
- Suva LJ, Westhusin ME, Long CR, Gaddy D. Engineering bone phenotypes in domestic animals: Unique resources for enhancing musculoskeletal research. Bone 2020 Jan;130:115119.
- Ueda K, Kawai T, Senoo H, Shimizu A, Ishiko A, Nagata M. Histopathological and electron microscopic study in dogs with patellar luxation and skin hyperextensibility. J Vet Med Sci 2018 Aug 30;80(8):1309-1316.
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