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Related Concept Videos

Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...

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Induction and Clinical Scoring of Chronic-Relapsing Experimental Autoimmune Encephalomyelitis
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Polioencephalopathy in Eurasier dogs.

Faye Rawson1, Matthias Christen2, Jeremy Rose3

  • 1Langford Veterinary Services, University of Bristol, Bristol, UK.

Journal of Veterinary Internal Medicine
|December 2, 2023
PubMed
Summary
This summary is machine-generated.

This study identifies a progressive polioencephalopathy in Eurasier dogs, linked to genetic variants in the mitochondrial trans-2-enoyl-CoA reductase (MECR) and autophagy-related gene 4D (ATG4D) genes.

Keywords:
caninemovement disorderneurodegenerativepolioencephalopathy

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Area of Science:

  • Canine genetics
  • Neurology
  • Inborn errors of metabolism

Background:

  • Polioencephalopathies in dogs due to metabolic disorders are known but rarely genetically characterized.
  • This study focuses on a specific family of Eurasier dogs exhibiting neurological symptoms.

Purpose of the Study:

  • To clinically and genetically characterize a polioencephalopathy in a family of Eurasier dogs.
  • To identify the underlying genetic cause of the observed neurological disorder.

Main Methods:

  • Clinical assessment of three Eurasier littermates with early-onset movement disorders.
  • Whole genome sequencing and genetic analysis of affected dogs and their family.
  • Genotyping of control Eurasier dogs for specific identified variants.

Main Results:

  • Affected dogs displayed progressive ataxia, gait abnormalities, and dystonia.
  • Brain MRI revealed symmetrical lesions in multiple brain regions, including the caudate nucleus and thalamus.
  • A homozygous missense variant in the mitochondrial trans-2-enoyl-CoA reductase (MECR) gene was found in all affected dogs.
  • A homozygous missense variant in the autophagy-related gene 4D (ATG4D) was identified in two affected dogs.

Conclusions:

  • A presumed hereditary and progressive polioencephalopathy is described in this Eurasier dog family.
  • The identified MECR and ATG4D variants are potential causes of the observed neurological condition.
  • Further research is required to elucidate the pathogenic role of MECR variants in canine neurological disease.