Hereditary equine regional dermal asthenia (HERDA), also known as hyperelastosis cutis (HC), is an inherited
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
connective tissue
Connective tissue is one of the four primary types of animal tissue, along with epithelial tissue, muscle tissue, and nervous tissue. It develops from the mesenchyme derived from the mesoderm the middle embryonic germ layer. Connective tiss ...
disorder. It develops from a homozygous recessive mutation that weakens collagen fibers that allow the skin of the animal to stay connected to the rest of the animal. Affected horses have extremely fragile
skin
Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation.
Other cuticle, animal coverings, such as the arthropod exoskeleton, have diffe ...
that tears easily and exhibits impaired healing. In horses with HC, the skin separates between the deep and superficial
dermis
The dermis or corium is a layer of skin between the epidermis (with which it makes up the cutis) and subcutaneous tissues, that primarily consists of dense irregular connective tissue and cushions the body from stress and strain. It is divided i ...
. There is no cure. Most affected individuals receive an injury they cannot heal, and are
euthanized
Animal euthanasia ( euthanasia from el, εὐθανασία; "good death") is the act of killing an animal or allowing it to die by withholding extreme medical measures. Reasons for euthanasia include incurable (and especially painful) conditi ...
. Managed breeding strategy is currently the only option for reducing the incidence of the disease.
The disease is found primarily in the
American Quarter Horse
The American Quarter Horse, or Quarter Horse, is an American breed of horse that excels at sprinting short distances. Its name is derived from its ability to outrun other horse breeds in races of a quarter mile or less; some have been clocked at s ...
, specifically in
cutting
Cutting is the separation or opening of a physical object, into two or more portions, through the application of an acutely directed force.
Implements commonly used for wikt:cut, cutting are the knife and saw, or in medicine and science the scal ...
horse lines. Affected horses have been found to trace to the stallion
Poco Bueno __NOTOC__
Poco Bueno was a brown American Quarter Horse stallion foaled April 10, 1944.Simmons ''Legends'' p. 31-37 He was sired by King P-234 and out of the mare Miss Taylor who was by Old Poco Bueno. Poco Bueno was named for his maternal grands ...
, or possibly, farther back to one of his ancestors.
Researchers have now named four deceased Quarter Horse stallions that were carriers and produced at least one affected HERDA foal; they are Dry Doc,
Doc O'Lena
Doc O'Lena (1967–1993) was a Quarter Horse stallion, a champion cutting horse and a sire of champion cutting horses.Thornton, et al. ''Legends 4'' pp. 190–205 He was inducted into both the AQHA and NCHA Halls of Fame, as was his dam Poco Len ...
, Great Pine, and
Zippo Pine Bar
Zippo Pine Bar (1969-1998) is the leading Western Pleasure sire of Quarter Horses.
Life
Zippo Pine Bar was a 1969 sorrel son of Zippo Pat Bars out of Dollie Pine, a daughter of Poco Pine.[Poco Bueno __NOTOC__
Poco Bueno was a brown American Quarter Horse stallion foaled April 10, 1944.Simmons ''Legends'' p. 31-37 He was sired by King P-234 and out of the mare Miss Taylor who was by Old Poco Bueno. Poco Bueno was named for his maternal grands ...]
through his son and daughter Poco Pine and
Poco Lena
Poco Lena (1949–1968) was an outstanding cutting mare, and dam of two famous Quarter horse cutting horses and stallions: Doc O'Lena and Dry Doc.Swan ''Legends 3'' pp. 98–111
Life
Poco Lena was foaled in 1949, the daughter of Poco Bueno ou ...
. Other breeds affected are the
American Paint Horse
The American Paint Horse is a breed of horse that combines both the conformational characteristics of a western stock horse with a pinto spotting pattern of white and dark coat colors. Developed from a base of spotted horses with Quarter Horse ...
, and the
Appaloosa
The Appaloosa is an American horse breed best known for its colorful spotted coat pattern. There is a wide range of body types within the breed, stemming from the influence of multiple breeds of horses throughout its history. Each horse's colo ...
and any other breed registry that allows outcrossing to AQHA horses.
HERDA is characterized by abnormal skin along the back that tears or rips easily and heals into disfiguring scars. The skin is loose, and hyper-elastic in affected horses. This collagen based abnormality affects their heart valves too and their mechanical properties are found to be inferior to native horses. Symptoms typically don’t appear until the horse is subjected to pressure or injury on their back, neck or hips, usually around two years of age. However foals can show signs when injured, while other horses mature and only show signs in the joints.
[Have you Heard of HERDA]
accessed on July 10, 2007 The expression of HERDA is variable, and the
phenotypic
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...
range of expression is still being determined.
After being tested, the results either show "normal", "carrier" or "affected" and can be determined by DNA testing of either a blood or hair sample.
*N/N — Normal: does not have the HERDA gene
*N/HRD- Carrier: carries one copy of the gene
*HRD/HRD- Affected: has two copies of the gene
The expected lifespan of an affected horse is 2–4 years. There is currently no cure for this disease. To prevent it from occurring, the only solution is not to breed horses who both carry the HERDA
allele
An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution.
::"The chro ...
.
History
The disease first was recognized in 1971. Research of affected animals indicated that 95% of the identified HERDA horses have traced back to Poco Bueno on both sides of the
pedigree
Pedigree may refer to:
Breeding
* Pedigree chart, a document to record ancestry, used by genealogists in study of human family lines, and in selective breeding of other animals
** Pedigree, a human genealogy (ancestry chart)
** Pedigree (animal ...
. Some also trace to his full brother, Old Grand Dad. The remaining 5% trace to King, the sire of both horses. This may suggest that Poco Bueno could have inherited the HC mutation from his sire, with the possibility that the condition goes even further back. It is difficult to trace the condition further because no pedigrees to date completely distinguish between the lines of Poco Bueno's sire, King, and his dam, Miss Taylor; even if full records existed, it would be difficult to verify them due to their age.
A disease consistent with HERDA/HC was described in the scientific literature in 1988 documenting two related affected Quarter Horses. Researchers at Mississippi State University described a separation of the upper and lower dermis associated with a loose packing of collagen fibrils in a one-year-old filly with hyperelastosis cutis. In 2004, clinical veterinarians at the University of California, Davis first coined the term hereditary equine regional dermal asthenia (HERDA) after examining 50 horses with stereotypical presentation of the disease. Shortened and thinned collagen fibrils in the deep dermis was the significant characteristic shared among the affected skin of diseased horses.
Throughout the years, closely breeding back, or
inbreeding
Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and o ...
, to the lines of Poco Bueno increased the frequency of
homozygous
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism.
Mo ...
ity in the population, thus increasing the number of affected animals. The 2004 Quarter Horse News Stallion Register revealed that of the top 100 cutting horse stallions, 14 are known HERDA carriers. Today, approximately 28% of all horses of cutting horse bloodlines are carriers of HERDA.
Using DNA from the UC Davis clinical collection of HERDA samples, collaborating UC Davis geneticists searched for discreet areas of DNA that were homozygous, or identical by descent, uniquely in affected horses. UC Davis first reported successful preliminary mapping in January 2004. Additional work verified the disease was inherited, rather than caused solely by environmental insult, and strongly indicated an autosomal recessive mode of inheritance. In January 2007, UC Davis presented their findings at the Plant and Animal Genome Conference Equine Workshop indicating the ability to identify horses that carry HERDA. A full accounting of this work, detailing the mapping and identification of a mutation in the gene coding for
peptidylprolyl isomerase B, was published on May 11, 2007. Concurrent with publication of these results, the Veterinary Genetics Laboratory at UC Davis began offering a genetic test to identify carriers of the disease allele.
In the spring of 2007, researchers working independently at
Cornell University
Cornell University is a private statutory land-grant research university based in Ithaca, New York. It is a member of the Ivy League. Founded in 1865 by Ezra Cornell and Andrew Dickson White, Cornell was founded with the intention to teach an ...
and at the
University of California, Davis
The University of California, Davis (UC Davis, UCD, or Davis) is a public land-grant research university near Davis, California. Named a Public Ivy, it is the northernmost of the ten campuses of the University of California system. The institut ...
announced that a
DNA test for HERDA had been developed. Over 1,500 horses were tested during the development phase of the test, which was initially available to the general public through both institutions.
A United States patent for the HERDA test was issued to UC Davis
on October 27, 2009.
References
External links
Horsetalk.co.nz: HERDA a debilitating genetic skin condition
{{DEFAULTSORT:Hereditary Equine Regional Dermal Asthenia
Horse diseases
American Quarter Horses