Cargando…

Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan

Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats with a suspected genetic origin. Previous studies have identified five HCM-associated variants in three genes (Myosin binding protein C3: MYBPC3 p.A31P, p.A74T, p.R820W; Myosin heavy chain 7: MYH7 p.E1883K; Alstrom syndrome p...

Descripción completa

Detalles Bibliográficos
Autores principales: Akiyama, Noriyoshi, Suzuki, Ryohei, Saito, Takahiro, Yuchi, Yunosuke, Ukawa, Hisashi, Matsumoto, Yuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10112785/
https://www.ncbi.nlm.nih.gov/pubmed/37071642
http://dx.doi.org/10.1371/journal.pone.0283433
_version_ 1785027692700106752
author Akiyama, Noriyoshi
Suzuki, Ryohei
Saito, Takahiro
Yuchi, Yunosuke
Ukawa, Hisashi
Matsumoto, Yuki
author_facet Akiyama, Noriyoshi
Suzuki, Ryohei
Saito, Takahiro
Yuchi, Yunosuke
Ukawa, Hisashi
Matsumoto, Yuki
author_sort Akiyama, Noriyoshi
collection PubMed
description Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats with a suspected genetic origin. Previous studies have identified five HCM-associated variants in three genes (Myosin binding protein C3: MYBPC3 p.A31P, p.A74T, p.R820W; Myosin heavy chain 7: MYH7 p.E1883K; Alstrom syndrome protein 1: ALMS1 p.G3376R). These variants are considered breed-specific, with the exception of MYBPC3 p.A74T, and have rarely been found in other breeds. However, genetic studies on HCM-associated variants across breeds are still insufficient because of population and breed bias caused by differences in genetic background. This study investigates the ubiquitous occurrence of HCM-associated genetic variants among cat breeds, using 57 HCM-affected, 19 HCM-unaffected, and 227 non-examined cats from the Japanese population. Genotyping of the five variants revealed the presence of MYBPC3 p.A31P and ALMS1 p.G3376R in two (Munchkin and Scottish Fold) and five non-specific breeds (American Shorthair, Exotic Shorthair, Minuet, Munchkin and Scottish Fold), respectively, in which the variants had not been identified previously. In addition, our results indicate that the ALMS1 variants identified in the Sphynx breed might not be Sphynx-specific. Overall, our results suggest that these two specific variants may still be found in other cat breeds and should be examined in detail in a population-driven manner. Furthermore, applying genetic testing to Munchkin and Scottish Fold, the breeds with both MYBPC3 and ALMS1 variants, will help prevent the development of new HCM-affected cat colonies.
format Online
Article
Text
id pubmed-10112785
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Public Library of Science
record_format MEDLINE/PubMed
spelling pubmed-101127852023-04-19 Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan Akiyama, Noriyoshi Suzuki, Ryohei Saito, Takahiro Yuchi, Yunosuke Ukawa, Hisashi Matsumoto, Yuki PLoS One Research Article Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats with a suspected genetic origin. Previous studies have identified five HCM-associated variants in three genes (Myosin binding protein C3: MYBPC3 p.A31P, p.A74T, p.R820W; Myosin heavy chain 7: MYH7 p.E1883K; Alstrom syndrome protein 1: ALMS1 p.G3376R). These variants are considered breed-specific, with the exception of MYBPC3 p.A74T, and have rarely been found in other breeds. However, genetic studies on HCM-associated variants across breeds are still insufficient because of population and breed bias caused by differences in genetic background. This study investigates the ubiquitous occurrence of HCM-associated genetic variants among cat breeds, using 57 HCM-affected, 19 HCM-unaffected, and 227 non-examined cats from the Japanese population. Genotyping of the five variants revealed the presence of MYBPC3 p.A31P and ALMS1 p.G3376R in two (Munchkin and Scottish Fold) and five non-specific breeds (American Shorthair, Exotic Shorthair, Minuet, Munchkin and Scottish Fold), respectively, in which the variants had not been identified previously. In addition, our results indicate that the ALMS1 variants identified in the Sphynx breed might not be Sphynx-specific. Overall, our results suggest that these two specific variants may still be found in other cat breeds and should be examined in detail in a population-driven manner. Furthermore, applying genetic testing to Munchkin and Scottish Fold, the breeds with both MYBPC3 and ALMS1 variants, will help prevent the development of new HCM-affected cat colonies. Public Library of Science 2023-04-18 /pmc/articles/PMC10112785/ /pubmed/37071642 http://dx.doi.org/10.1371/journal.pone.0283433 Text en © 2023 Akiyama et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Akiyama, Noriyoshi
Suzuki, Ryohei
Saito, Takahiro
Yuchi, Yunosuke
Ukawa, Hisashi
Matsumoto, Yuki
Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan
title Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan
title_full Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan
title_fullStr Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan
title_full_unstemmed Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan
title_short Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan
title_sort presence of known feline alms1 and mybpc3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in japan
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10112785/
https://www.ncbi.nlm.nih.gov/pubmed/37071642
http://dx.doi.org/10.1371/journal.pone.0283433
work_keys_str_mv AT akiyamanoriyoshi presenceofknownfelinealms1andmybpc3variantsinadiversecohortofcatswithhypertrophiccardiomyopathyinjapan
AT suzukiryohei presenceofknownfelinealms1andmybpc3variantsinadiversecohortofcatswithhypertrophiccardiomyopathyinjapan
AT saitotakahiro presenceofknownfelinealms1andmybpc3variantsinadiversecohortofcatswithhypertrophiccardiomyopathyinjapan
AT yuchiyunosuke presenceofknownfelinealms1andmybpc3variantsinadiversecohortofcatswithhypertrophiccardiomyopathyinjapan
AT ukawahisashi presenceofknownfelinealms1andmybpc3variantsinadiversecohortofcatswithhypertrophiccardiomyopathyinjapan
AT matsumotoyuki presenceofknownfelinealms1andmybpc3variantsinadiversecohortofcatswithhypertrophiccardiomyopathyinjapan