Genetic Test
The SLC25A12 (Solute Carrier Family 25 Member 12) gene encodes a calcium-binding mitochondrial protein involved in intracellular metabolism.
This protein plays a crucial role in mitochondrial energy regulation and calcium homeostasis, which are essential for the function of high-energy-demand tissues such as the brain and muscles.
Mutations in the SLC25A12 gene have been associated with disrupted myelination in the brain and neurodevelopmental disorders such as autism in humans.
In dogs, a specific mutation has been linked to inflammatory myopathy, a condition characterized by muscle inflammation, weakness, and impaired mobility.
This genetic test targets a specific SLC25A12 mutation associated with inflammatory myopathy.
Disease Description
Inflammatory myopathy is a neuromuscular disorder characterized by inflammation of the muscle tissues, which can lead to progressive muscle loss, severe muscle atrophy, and impaired muscle function.
This condition may result in serious clinical signs such as vision loss, inability to eat, and difficulty or complete inability to walk.
In some cases, affected dogs may also develop gross pathological lesions, including muscle hemorrhage and fibrosis, which further compromise muscle integrity and overall physical condition.
