A QIL1 Variant Associated with Ventricular Arrhythmias and Sudden Cardiac Death in the Juvenile Rhodesian Ridgeback Dog

Genes
Kathryn M MeursG Diane Shelton

Abstract

The QIl1 gene produces a component of the Mitochondrial Contact Site and Cristae Organizing System that forms and stabilizes mitochondrial cristae junctions and is important in cellular energy production. We previously reported a family of Rhodesian Ridgebacks with cardiac arrhythmias and sudden cardiac death. Here, we performed whole genome sequencing on a trio from the family. Variant calling was performed using a standardized bioinformatics approach. Variants were filtered against variants from 247 dogs of 43 different breeds. High impact variants were validated against additional affected and unaffected dogs. A single missense G/A variant in the QIL1 gene was associated with the cardiac arrhythmia (p < 0.0001). The variant was predicted to change the amino acid from conserved Glycine to Serine and to be deleterious. Ultrastructural analysis of the biceps femoris muscle from an affected dog revealed hyperplastic mitochondria, cristae rearrangement, electron dense inclusions and lipid bodies. We identified a variant in the Q1l1 gene resulting in a mitochondrial cardiomyopathy characterized by cristae abnormalities and cardiac arrhythmias in a canine model. This natural animal model of mitochondrial cardiomyopathy provides a l...Continue Reading

References

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Citations

Nov 13, 2019·Nucleic Acids Research·Jennifer R SmithMary E Shimoyama
Jul 22, 2019·Research in Veterinary Science·Pamela M Lee, Rebecca H T Brown
Jun 21, 2021·The Veterinary Journal·Celine Brugada-TerradellasPascale Smets
Jun 21, 2021·Journal of Veterinary Cardiology : the Official Journal of the European Society of Veterinary Cardiology·L ShenC A Pacak
Jul 17, 2021·Biochimica Et Biophysica Acta. Biomembranes·Jennifer UrbachRuchika Anand

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Methods Mentioned

BETA
biopsy
electron microscopy

Software Mentioned

Picard Tools
Polyphen
Trimmomatic
HaplotypeCaller
BWA
SIFT
Provean
GATK

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