Genetic Test
The MTM1 (Myotubularin) gene encodes a protein with phosphatase activity that is involved in the dephosphorylation of specific lipids within cells.
This enzyme plays a vital role in the maintenance and function of skeletal muscle by regulating cellular processes essential for muscle fiber integrity.
Additionally, the MTM1 protein contributes to the proper morphology and intracellular positioning of mitochondria, the organelles responsible for cellular respiration and energy production.
It is also involved in maintaining the normal function of inner ear cells, suggesting a broader role beyond muscle tissue.
This genetic test targets three known mutations in the MTM1 gene associated with X-linked myotubular myopathy (XLMTM), a congenital muscle disorder.
Disease Description
Myotubular myopathy is a congenital muscle disorder characterized by the abnormal positioning of nuclei in skeletal muscle cells—specifically, the nuclei are located centrally rather than at the periphery, which disrupts normal muscle function.
This condition is classified into three forms based on severity, inheritance pattern, and clinical presentation:
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X-linked myotubular myopathy (XLMTM)
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Autosomal recessive myotubular myopathy
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Autosomal dominant myotubular myopathy
Myotubular myopathy type 1 (XLMTM) is the most severe form and typically presents with early-onset clinical signs.
There is currently no effective treatment available, and due to the severity of symptoms, affected dogs are often recommended for euthanasia between 3 and 6 months of age to prevent suffering and poor quality of life.
