COL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy.

Brands, Jan; Steffen, Frank; Spennes, Jochen; Leeb, Tosso; Bilzer, Thomas (2021). COL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy. Muscle & nerve, 63(4), pp. 608-616. John Wiley & Sons 10.1002/mus.27162

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INTRODUCTION

Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich congenital muscular dystrophy. In this study, we describe analoguos clinical signs and histopathological alterations in Landseer dogs.

MATERIALS

We collected clinical data from 2 affected dogs and investigated the neuromuscular changes in 5 dogs from 2 different litters with immunohistochemistry and immunofluorescence. All affected dogs were homozygous for the p.Glu97* nonsense variant in the COL6A1 gene encoding the alpha-1 chain of collagen VI.

RESULTS

Muscle biopsies revealed alterations similar to those in human patients with Ullrich congenital muscular dystrophy including the virtual absence of collagen VI in skeletal muscles.

DISCUSSION

The clinical and pathological characterization of the affected Landseer dogs enhances the value of this animal model for human Ullrich congenital muscular dystrophy. This article is protected by copyright. All rights reserved.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics

UniBE Contributor:

Leeb, Tosso

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

0148-639X

Publisher:

John Wiley & Sons

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

05 Jan 2021 14:28

Last Modified:

19 Mar 2021 01:33

Publisher DOI:

10.1002/mus.27162

PubMed ID:

33382107

Uncontrolled Keywords:

Canis lupus familaris Ullrich congenital muscular dystrophy animal model collagen VI

BORIS DOI:

10.48350/150633

URI:

https://boris.unibe.ch/id/eprint/150633

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