Mitochondrial dysfunction syndrome 3 (MMDS3)

General Information: Mitochondrial Dysfunction Syndrome 3 (MMDS3) is a rare inherited metabolic disorder in dogs caused by a mutation in the IBA57 gene. This condition affects the function of mitochondria, which are the energy-producing structures within cells, leading to a range of clinical symptoms associated with impaired cellular energy production. MMDS3 is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene (one from each parent) to be affected.

Symptoms of MMDS3 can include progressive muscle weakness, exercise intolerance, neurological signs such as tremors or difficulty walking, and in some cases, developmental delays or failure to thrive. The severity of symptoms can vary, but the condition is generally debilitating and may reduce the affected dog's quality of life. Supportive care and management strategies, such as dietary modifications or symptom-specific treatments, may help improve the dog's comfort, but there is no definitive cure for this condition.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog is a Carrier

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the IBA57 gene variant can determine whether a dog is at risk of developing Mitochondrial Dysfunction Syndrome 3 (MMDS3) or if they are a carrier of the condition. This disorder is inherited in an Autosomal Recessive manner, meaning that only dogs with two copies of the mutated gene are affected.

Dogs with one copy of the mutation are carriers and will not show symptoms but can pass the mutation on to their offspring. Genetic testing is crucial for responsible breeding practices, as breeding two carriers will result in a 25% chance of producing affected offspring, a 50% chance of producing carrier offspring, and a 25% chance of producing unaffected offspring.