Prevalence of the mutation in cyclophilin B (PPIB), a causal candidate gene for HERDA, among Quarter Horses in France.

The study indicates that the cyclophilin B (PPIB) mutation associated with Hereditary equine regional dermal asthenia (HERDA), a skin disease in Quarter Horses, has a prevalence rate of 1.6% among Quarter Horses in France.

Understanding Hereditary Equine Regional Dermal Asthenia (HERDA)

• The research article addresses a condition known as Hereditary equine regional dermal asthenia (HERDA), which is an inherited skin disease exclusive to Quarter Horses.
• HERDA was originally recognized as hyperelastosis cutis and is characterized by symptoms like hyperextensible, fragile skin, haematomas, ulcers, seromas and scarring, mainly affecting the dorsal part of the horse’s body.
• It’s assumed that HERDA is transmitted via an autosomal recessive mode of inheritance, meaning that horses affected by the condition are more likely to produce siblings and offspring that share the condition.

The PPIB Mutation

• The study references research identifying a mutation in the cyclophilin B gene (PPIB) as a likely cause for HERDA.
• This mutation has been confirmed to segregate, or occur, among carriers and horses already affected by HERDA.

Mutation Prevalence in the US and France

• A previous screening conducted in the USA discovered that the carrier frequency of the PPIB mutation among Quarter Horses was 3.5%.
• The current research set out to establish the prevalence of the same mutation in Quarter Horses in France. Through their investigation, the scientists determined that the prevalence was at a lower rate of 1.6%.

Implications of the Research

• This research is significant as it adds to the broader understanding of HERDA in Quarter Horses, particularly regarding the geographic prevalence of the disease-causing gene mutation.
• Breeders and veterinarians can use these findings to inform their practice, understanding that horses in France have a lower risk of carrying the PPIB mutation compared to horses in the US.