Journal of Veterinary Internal Medicine
 2013
DOI: 10.1111/jvim.12031
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Myosin-Binding Protein C DNA Variants in Domestic Cats (A31P, A74T, R820W) and their Association with Hypertrophic Cardiomyopathy

M. Longeri
1
,
Paolo Ferrari
2
,
P. Knafelz
3
et al.

Abstract: Background Two mutations in the MYBPC3 gene have been identified in Maine Coon (MCO) and Ragdoll (RD) cats with hypertrophic cardiomyopathy (HCM). Objective The present study examines the frequency of these mutations and of the A74T polymorphism to describe their worldwide distribution and correlation with echocardiography. Animals 1855 cats representing 28 breeds and random bred cats world-wide of which 446 underwent echocardiographic examination. Methods This is a prospective cross sectional study. Pol… Show more

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Cited by 69 publications

(115 citation statements)
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“…The data from one of the commercial laboratories that contributed to this study were consistent with this hypothesis: their data showed that allelic frequencies decreased substantially from 2008 to 2021 from 19.54 to 0.95% and from 15.63 to 0% for the MYBPC3:c.91G > C [A31P] and the MYBPC3:c.2453C > T [R818W] variant, respectively. This aligns with the temporal trends observed in earlier research and is slightly lower in 2021 than our current estimate (Supplementary Table S6) (36,(46)(47)(48)(49)(50). Overall, in agreement with the literature, this is a variant that mainly occurs in the Maine Coon breed, accidentally in other breeds and selection may have reduced its frequency.…”
Section: Discussionsupporting
confidence: 92%
“…Our results are similar to the subsequent studies with allelic and genotypic ORs of 3.59 and 13.09, respectively, and an OR of 11.25, if calculated as described in the study of Stern et al (52). For MYBPC3:c.220G > A [A74T], the initial study reported a genotypic OR (based on an autosomal recessive mode of inheritance) of 7.6 (53), while a follow-up study found a value of 0.89 and the latter also resembles our allelic OR result of 2.56 (36). For MYBPC3:c.2453C > T [R818W], it is more difficult to compare the results with other replication studies: sample sizes were sometimes too low to assess association or data presentation did not allow exact OR calculation.…”
Section: Discussionsupporting
confidence: 74%
See 1 more Smart Citation
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
“…The data from one of the commercial laboratories that contributed to this study were consistent with this hypothesis: their data showed that allelic frequencies decreased substantially from 2008 to 2021 from 19.54 to 0.95% and from 15.63 to 0% for the MYBPC3:c.91G > C [A31P] and the MYBPC3:c.2453C > T [R818W] variant, respectively. This aligns with the temporal trends observed in earlier research and is slightly lower in 2021 than our current estimate (Supplementary Table S6) (36,(46)(47)(48)(49)(50). Overall, in agreement with the literature, this is a variant that mainly occurs in the Maine Coon breed, accidentally in other breeds and selection may have reduced its frequency.…”
Section: Discussionsupporting
confidence: 92%
“…Our results are similar to the subsequent studies with allelic and genotypic ORs of 3.59 and 13.09, respectively, and an OR of 11.25, if calculated as described in the study of Stern et al (52). For MYBPC3:c.220G > A [A74T], the initial study reported a genotypic OR (based on an autosomal recessive mode of inheritance) of 7.6 (53), while a follow-up study found a value of 0.89 and the latter also resembles our allelic OR result of 2.56 (36). For MYBPC3:c.2453C > T [R818W], it is more difficult to compare the results with other replication studies: sample sizes were sometimes too low to assess association or data presentation did not allow exact OR calculation.…”
Section: Discussionsupporting
confidence: 74%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
“…The MYH7 Glu1883Lys variant was initially reported in a domestic shorthair cat but was not identified in any of the domestic shorthair cats evaluated here. These results are also consistent with the previous findings of the Maine Coon Ala31Pro variant in which only one Ragdoll, one Siberian and one British Shorthair with HCM were identified with the Ala31Pro variant (Fries et al 2008;Mary et al 2010;Longeri et al 2013). To the authors' knowledge, the Ragdoll Arg820Trp variant has not been identified in any other breed (Longeri et al 2013).…”
supporting
confidence: 92%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
“…105 However, this study again showed that the penetrance is much higher in cats that are homozygous for the A31P mutation (0.58 in this study), which again demonstrates that the mutation is causal rather than simply a benign polymorphism. Consequently, it appears that the majority of the clinically apparent disease seen in young to middle-aged Maine Coon cats is in cats that are homozygous for the mutation.…”
Section: Feline Hcmmentioning
confidence: 48%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
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