OMIA 000515-9823 : Cardiomyopathy, hypertrophic in Sus scrofa

In other species: domestic cat , dog , woolly monkeys , cattle , golden hamster , Arabian camel

Possibly relevant human trait(s) and/or gene(s) (MIM number): 192600

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Increase in volume of the muscle tissue of the heart, due to an increase in the size of muscle cells, primarily in the left ventricle and ventricular septum.

Species-specific description: A hypertrophic cardiomyopathy (HCM) strain of pigs has been developed by selection (Huang et al., 1996).

Montag et al. (2018) produced affected pigs via a knock-in of the pig orthologue of a causative mutation (R723G in the MYH7 gene) in humans. This is a genetically-modified organism (GMO).

Inheritance: familial, multifactorial, with a moderate heritability (around 30%)

Molecular basis: Montag et al. (2018) created pigs affected with this disorder using "TALEN-mediated genome editing and successfully introduced the HCM-point mutation R723G into the MYH7 gene of porcine fibroblasts and subsequently cloned pigs that were heterozygous for the [human] HCM-mutation R723G . . . (c.2223C > G, NM_000257)". The authors introduced "the orthologous point mutation (c.2167C > G, NM_213855) in the genome of German Landrace pigs via TALEN based genome editing", thus producing a "knock-in" mutation.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2018 Montag, J., Petersen, B., Flögel, A.K., Becker, E., Lucas-Hahn, A., Cost, G.J., Mühlfeld, C., Kraft, T., Niemann, H., Brenner, B. :
Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs. Sci Rep 8:4786, 2018. Pubmed reference: 29555974. DOI: 10.1038/s41598-018-22936-z.
2003 Lin, C.S., Sun, Y.L., Liu, C.Y. :
Structural and biochemical evidence of mitochondrial depletion in pigs with hypertrophic cardiomyopathy Research in Veterinary Science 74:219-26, 2003. Pubmed reference: 12726740.
1999 Chiu, Y.T., Liu, S.K., Liu, M., Chen, S.P., Lin, Y.H., Mao, S.J.T., Chu, R. :
Characterization and quantitation of extracellular collagen matrix in myocardium of pigs with spontaneously occurring hypertrophic cardiomyopathy Cardiovascular Pathology 8:169-175, 1999. Pubmed reference: 10722240.
Huang, S.Y., Tsou, H.L., Chiu, Y.T., Wu, J.J., Lin, J.H., Yang, P.C., Liu, S.K. :
Statistical method for characterization of hypertrophic cardiomyopathy by use of morphologic and pathologic measurements in pigs (Sus scrofa domestica) Laboratory Animal Science 49:276-282, 1999. Pubmed reference: 10403442.
1997 Dai, K.S., Chu, R., Chiu, Y.T., Lin, J.H., Liu, S.K., Hwang, J.P., Yang, P.C., Huang, T.Y., Mao, S.J.T. :
Intramural coronary artery disease in swine with naturally occurring hypertrophic cardiomyopathy Journal of Submicroscopic Cytology & Pathology 29:511-519, 1997.
1996 Dai, K.S., Chen, S.P., Yang, P.C., Liu, C.Y., Mao, S.J.T. :
Ultrastructural alterations in pigs with naturally occurring hypertrophic cardiomyopathy British Veterinary Journal 152:333-338, 1996. Pubmed reference: 8762609.
Huang, S.Y., Tsou, H.L., Chiu, Y.T., Shyu, J.J., Wu, J.J., Lin, J.H., Liu, S.K. :
Heritability estimate of hypertrophic cardiomyopathy in pigs (Sus scrofa domestica) Laboratory Animal Science 46:310-314, 1996. Pubmed reference: 8799938.
Lee, W.C., Lin, K.Y., Chiu, Y.T., Lin, J.H., Cheng, H.C., Huang, H.C., Yang, P.C., Liu, S.K., Mao, S.J.T. :
Substantial decrease of heat shock protein 90 in ventricular tissues of two sudden-death pigs with hypertrophic cardiomyopathy FASEB Journal 10:1198-1204, 1996. Pubmed reference: 8751722.
1995 Dai, K.S., Liang, C.S., Chiu, Y.T., Yang, P.C., Cheng, I.C. :
Altered adenosine triphosphatase activities in pigs with naturally occurring hypertrophic cardiomyopathy Veterinary Research Communications 19:115-125, 1995. Pubmed reference: 7645194.
1994 Liu, S.K., Chiu, Y.T., Shyu, J.J., Factor, S.M., Chu, R., Lin, J.H., Hsou, H.L., Fox, P.R., Yang, P.C. :
Hypertrophic cardiomyopathy in pigs: Quantitative pathologic features in 55 cases Cardiovascular Pathology 3:261-268, 1994.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 24 Mar 2018