Equine_Genetic_Diseases

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Oklahoma State University *

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4423

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Feb 20, 2024

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Horse Science ANSI 4423 Homework Assignment 1 Equine Genetic Diseases Due- Tuesday, January 30 at midnight Submit on Dropbox A. For each one of the following diseases listed in the table below, briefly (1-2 sentences) describe each of the following: a. HYPP i. Hyperkalemic Periodic Paralysis is an autosomal dominant trait associated with the Quarter horse Impressive. ii. HYPP was caused by a missense mutation and failed sodium channels to activate. This causes muscle weakness and depolarization. iii. Horses can be either asymptomatic or have daily episodes of muscle weakness. A severe symptom is the constriction of the upper respiratory airway. iv. Light exercise can help treat the disease. Decreasing potassium and increasing renal losses of potassium can prevent episodes. b. PSSM i. Polysaccharide Storage Myopathy is an autosomal dominant disease affecting glycogen storage in many registered horse breeds. ii. The mutation is a 10-single base-pair substitution in the glycogen synthase one gene located on chromosome 10. iii. Signs occur around 5 years old and are shown by muscle pain, stiffness, sweating, etc. iv. Stall confinement and hydration help treat the disease, and sticking to a strict exercise and diet plan helps with control. c. GBED i. Glycogen Branching Enzyme Deficiency is an autosomal recessive disease affecting Quarter and Paint horses and causes foals to be aborted or stillborn. ii. Glycogen isn’t used throughout the body properly, causing internal organs to shut down. iii. Affected foals are mainly stillborn or aborted. If a live foal is born, foals appear hypothermic and weak and eventually die due to heart or respiratory failure. iv. There is no treatment for the disease, but testing foals/dams can prevent the disease from passing carrier DNA. d. HERDA i. Hereditary Equine Regional Dermal Asthenia is an autosomal recessive disease that affects Quarter horses, similar to EDS in humans. ii. The exact cause of the genetic mutation is unknown. iii. Symptoms of HERDA start around the time of saddle breaking and cause open wounds where the saddle sits. iv. There is no treatment for the disease, but lesions occur less in the winter. e. OLWS i. Overo Lethal White Foal Syndrome is an autosomal recessive trait affecting mainly Paint and Quarter horses. Foals are born mainly/all white and die due to colic. ii. The cause (etiology) of the disease. iii. Foals are born all/mainly white and showing signs of intestinal tract abnormalities, causing colic in the first 12 hours of life. iv. There’s no treatment or way to control the disease. ( Refer to Equine Genetic Diseases online under Related Articles )
Observed percentages of horses carrying a disease-causing allele for whole breeds (AQHA & APHA) and elite competitive subgroups. Affected dominant Carrying recessive Group HYPP PSSM GBED HERDA OLWS APHA (control) 4.5 4.5 3.9 1.7 21.3 AQHA (all groups) 1.5 11.3 11.0 3.5 0 Halter 56.4 28.2 5.1 0.8 0 Western Pleasure 1.1 8.6 26.3 12.8 0 Cutting 0 6.7 13.6 28.3 0 Reining 0 4.3 3.1 9.3 0 Working Cowhorse 0 5.7 9.5 11.5 0 Barrel Racing 1.2 1.4 1.2 1.2 0 Racing 0 2.0 0 0 0 B. AQHA now requires a five-panel test to screen for genetic diseases. Four of them are listed in the table above. Which other disease is included in this panel? Please briefly discuss the disease's definition, cause, signs, and treatment. a. Malignant Hyperthermia is an autosomal dominant disease caused by using anesthesia during surgery. Symptoms include higher body temp and blood CO2, and can eventually die due to cardiac arrest. Treatment includes pretreatment with oral dantrolene 30–60 min before anesthesia. C. Specifically, which horses must have a five-panel test performed in AQHA? a. Stallions must have the test done to be used for breeding. D. What is the cost? a. Genetic panel test: $100 for members and $155 for nonmembers. b. Genetic panel and DNA test: $120 for members and $175 for nonmembers. E. Are there any other genetic tests recently added to the original five-panel? If so, what are they? a. Yes, MYHM or Myosin Heavy Chain Myopathy was added
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