Back

Leigh syndrome

Affected Genes: NDUFS7

Inheritance: Autosomal Recessive

Variant(canFam6):
chr20:57236344: C>T

General Information: Leigh syndrome is an inherited neurological disorder in dogs characterized by progressive degeneration of the central nervous system. This condition results from genetic mutations that affect the function of mitochondria, the energy-producing structures within cells. Dogs with two copies of the associated gene mutation are predisposed to Leigh syndrome, which typically manifests in early puppyhood. Symptoms include muscle weakness, lack of coordination, difficulty walking, seizures, and behavioral changes. As the disease progresses, it can lead to severe neurological impairment and significantly impact the dog's quality of life. While not all dogs with the mutation will show symptoms immediately, the condition often worsens over time, requiring supportive care and management to maintain the dog's comfort and mobility.

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

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the specific gene associated with Leigh syndrome can determine if a dog is a carrier of this condition. This disorder is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.


References:
Christen M, Gregor A, Gutierrez-Quintana R, Bongers J, Rupp A, Penderis J, Shelton GD, Jagannathan V, Zweier C, and Leeb T. NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Sci Rep. 2024 14:2975.