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Encephalopathy (Alaskan Husky Type)

Description

Genetic basis - caused by a mutation in the SLC19A3 gene, which encodes the thiamine transporter 2 (THTR2). Specific mutation is a 4 base pair insertion and nucleotide substitution: c.624insTTGC and c.625C>A, leading to a premature stop codon and truncated, non-functional protein. The gene is critical for transporting thiamine (vitamin B1) into cells, especially in the central nervous system (CNS).

Pathophysiology - Deficiency of functional thiamine transporter impairs thiamine uptake in CNS cells. Leads to brain-specific thiamine deficiency, causing mitochondrial dysfunction and oxidative stress. Results in bilaterally symmetrical necrotizing encephalopathy, with lesions in various brain regions. Previously classified as a mitochondrial encephalopathy due to similar pathology to human Leigh syndrome.

Complications - Progressive neurological decline leading to disability or death. Multiple brain deficits affecting motor, sensory, and cognitive function. Seizures and blindness can severely impair quality of life. No effective cure; treatment is supportive.

Why This Matters to Breeders and Vets - Alaskan Husky Encephalopathy (AHE) is a severe, often fatal inherited neurological disorder. Genetic testing identifies carriers, enabling breeders to avoid at-risk matings. Early diagnosis allows for better clinical management and owner education. Understanding this mutation helps veterinarians recognize symptoms and provides insight into thiamine-related brain disorders. Prevents unintentional breeding of affected litters, improving breed health.

Recommended Breeding

Diseases

Encephalopathy (Alaskan Husky Type)

$ 50.00

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Associated Breed(s):

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Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Gene:

Thiamine transporter 2 (LOC486151) also known as SLC19A3 on Chromosome 25

Variant Detected:

4 base pair insertion and nucleotide substitution: c.624insTTGC and c.625C>A

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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