Dermal Collagen Degradation and Phagocytosis

Gunson, Diane E.

doi:10.1001/archderm.1984.01650410041013

Cited by 23 publications

(1 citation statement)

References 11 publications

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“…Characteristic symptoms of EDS are fragility of the soft connective tissues with widespread manifestations in skin, ligaments and joints, blood vessels, and internal organs [2]. In the last several decades, EDS-like syndrome was described in a broad range of mammals [3] as well as in several horse breeds including heavy horses [4], warmblood horses [5][6][7][8], Arabians [9,10], Quarter horses [11][12][13][14][15][16][17][18][19][20][21][22][23] and Thoroughbreds [24].…”

Section: Introductionmentioning

confidence: 99%

Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

Reiter

Wallner

Brem

et al. 2020

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Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in warmblood breeds but the WFFS allele has been also detected in the Thoroughbred. To investigate the breed distribution of the WFFS allele, 4081 horses belonging to 38 different breeds were screened. In total, 4.9% of the horses representing 21 breeds carried the WFFS allele. The affected breeds were mainly warmbloods, with carrier frequency as high as 17% in the Hanoverian and Danish Warmblood. The WFFS allele was not detected in most non-warmblood breeds. Exceptions include WFFS carriers in the Thoroughbred (17/716), Haflinger (2/48), American Sport Pony (1/12), and Knabstrupper (3/46). The origin of the WFFS allele remains unknown. The Arabian breed and specifically the stallion Bairactar Or. Ar. (1813), whose offspring were reported to have a similar phenotype in the 19th century, were hypothesized as the origin. DNA from a museum sample of Bairactar Or. Ar. showed that he did not carry the mutated allele. This result, together with the genotypes of 302 Arabians, all homozygous for the reference allele, does not support an Arabian origin of the WFFS allele. Our extensive survey shows the WFFS allele to be of moderate frequency and concern in warmbloods and also in breeds where it may not be expected.

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Section: Introductionmentioning

confidence: 99%

Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

Reiter

Wallner

Brem

et al. 2020

Genes

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Connective Tissue Disorders in Domestic Animals

Roberts

Halper

2021

Advances in Experimental Medicine and Biology

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Connective Tissue Disorders in Domestic Animals

Halper

2013

Advances in Experimental Medicine and Biology

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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.

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Dermal Collagen Degradation and Phagocytosis

Cited by 23 publications

References 11 publications

Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

Connective Tissue Disorders in Domestic Animals

Connective Tissue Disorders in Domestic Animals

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