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Peer-reviewed veterinary case report

Disc calcification linked to gene copies in Nova Scotia Duck Tolling

By Bianchi, Catarina A et al.·Published in American journal of veterinary research·2023·School of Veterinary Medicine, United States·View original on PubMed

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Original publication title: FGF4L2 retrogene copy number is associated with intervertebral disc calcification and vertebral geometry in Nova Scotia Duck Tolling Retrievers.

Species:
dog

Plain-English summary

A group of Nova Scotia Duck Tolling Retrievers was studied to see how a specific gene (FGF4L2) affects their spine health. The researchers found that dogs with one or two copies of this gene had more calcification in their intervertebral discs compared to those without it. Some of these dogs also had signs of disc herniation, which can lead to pain or mobility issues. Understanding this genetic link can help breeders make better choices to reduce spine problems in future generations of these dogs.

People also search for: Nova Scotia Duck Tolling Retriever spine problems · dog intervertebral disc calcification · FGF4L2 gene effect on dogs

Abstract

OBJECTIVES: To evaluate the effects of the chondrodystrophy-associated FGF4L2 retrogene on intervertebral disc (IVD) calcification and vertebral geometry. ANIMALS: 22 Nova Scotia Duck Tolling Retrievers (NSDTR) with no FGF4L2 retrogene (n = 7, wild-type dogs), 1 retrogene copy (8, heterozygous dogs), or 2 retrogene copies (7, homozygous dogs). PROCEDURES: Computed tomography (CT) scans of the vertebral column were analyzed using computer-aided design (CAD) software. IVD calcification, vertebral column length, and vertebral geometry of the third cervical (C3), 13th thoracic (T13), and first lumbar (L1) vertebrae were compared. RESULTS: IVD calcification was not found in wild-type dogs. IVD calcification was more frequent in homozygous dogs than heterozygous (P = .008) or wild-type dogs (P < .001) and in heterozygous dogs compared to wild-type dogs (P < .001). Four IVDs were subclinically herniated in 3 dogs (2 homozygous, 1 heterozygous). Calcified IVD had a greater volume and surface area in heterozygous dogs than homozygous dogs. C3 vertebral canal height-to-width ratio was greater in homozygous dogs than heterozygous dogs (P = .044) and wild-type dogs (P = .010). CLINICAL RELEVANCE: IVD calcification and vertebral geometry can be analyzed using CAD software. The presence of 1 or 2 FGF4L2 copies in the absence of the FGF4L1 retrogene has an additive effect on the number of calcified IVD and a minor effect on vertebral geometry in NSDTR dogs. Data support the use of FGF4L2 phenotyping to reduce clinical disease in segregating breeds and to monitor the introduction of wild-type alleles into fixed breed populations.

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Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/36662606/