Assessment of PDK4 and TTN gene variants in 48 Doberman Pinschers with dilated cardiomyopathy

被引:0
|
作者
Meurs, Kathryn M. [1 ]
Stern, Joshua A. [2 ]
Adin, Darcy [1 ,3 ]
Keene, Bruce W. [1 ]
DeFrancesco, Theresa C. [1 ]
Tou, Sandra P. [1 ]
机构
[1] North Carolina State Univ, Dept Vet Clin Sci, Coll Vet Med, Raleigh, NC 27607 USA
[2] Univ Calif Davis, Dept Med & Epidemiol, Sch Vet Med, Davis, CA 95616 USA
[3] Univ Florida, Coll Vet Med, Dept Large Anim Clin Sci, Gainesville, FL 32608 USA
来源
JAVMA-JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION | 2020年 / 257卷 / 10期
关键词
D O I
暂无
中图分类号
S85 [动物医学(兽医学)];
学科分类号
0906 ;
摘要
OBJECTIVE To evaluate the frequency of variants in the pyruvate kinase dehydrogenase 4 (PDK4) and titin (TTN) genes in a group of Doberman Pinschers with dilated cardiomyopathy (DCM) and to determine whether there were unique clinical attributes to each variant. ANIMALS 48 Doberman Pinschers with DCM. PROCEDURES Doberman Pinschers with recently diagnosed DCM were identified, and genomic DNA from each was genotyped with a PCR assay for detection of PDK4 and TTN genetic variants. Dogs were grouped on the basis of whether they had the TTN variant alone, PDK4 variant alone, both variants, or neither variant. Descriptive statistics were compiled for dog age, body weight, and left ventricular dimensions and fractional shortening and for the presence of ventricular and supraventricular arrhythmias and heart failure. Results were compared across groups. RESULTS Of the 48 dogs, 28 had the TTN variant alone, 10 had both variants, 6 had neither variant, and 4 had the PDK4 variant alone. The mean age was younger for dogs with the PDK4 variant alone, compared with other dogs. However, the number of dogs with the PDK4 variant alone was very small, and there was an overlap in age across groups. No other meaningful differences were detected across groups, and independent genotype-phenotype relationships were not identified. CONCLUSIONS AND CLINICAL RELEVANCE Although findings indicated that the TTN variant was most common, 6 dogs had neither variant, and this fact supported the concept of >= 1 other genetic contributor to DCM in Doberman Pinschers. Future studies are warranted to evaluate genotype-phenotype relationships in Doberman Pinschers with DCM.
引用
收藏
页码:1041 / 1044
页数:4
相关论文
共 50 条
  • [41] Prospective Evaluation of NT-proBNP Assay to Detect Occult Dilated Cardiomyopathy and Predict Survival in Doberman Pinschers
    Singletary, G. E.
    Morris, N. A.
    O'Sullivan, M. Lynne
    Gordon, S. G.
    Oyama, M. A.
    JOURNAL OF VETERINARY INTERNAL MEDICINE, 2012, 26 (06) : 1330 - 1336
  • [42] Prospective evaluation of the combined value of physical examination and biomarker variables in screening for preclinical dilated cardiomyopathy in Doberman Pinschers
    Gordon, S. G.
    Wesselowski, S.
    Estrada, A. H.
    Braz-Ruivo, L.
    Morris, N.
    Haggstrom, J.
    O'Grady, M. R.
    Malcolm, E.
    JOURNAL OF VETERINARY CARDIOLOGY, 2022, 40 : 69 - 83
  • [43] Effect of severity of myocardial failure on heart rate variability in Doberman Pinschers with and without echocardiographic evidence of dilated cardiomyopathy
    Calvert, CA
    Wall, M
    JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION, 2001, 219 (08): : 1084 - 1088
  • [44] THE INFLUENCE OF CHRONIC COMBINED ENALAPRIL AND SPIRONOLACTONE ADMINISTRATION ON SERUM ELECTROLYTE CONCENTRATIONS IN DOBERMAN PINSCHERS WITH OCCULT DILATED CARDIOMYOPATHY
    Thomason, J. D.
    Rapoport, G.
    Fallaw, T.
    Calvert, C. A.
    JOURNAL OF VETERINARY INTERNAL MEDICINE, 2011, 25 (03) : 647 - 647
  • [45] Doberman pinschers present autoimmunity associated with functional autoantibodies: A model to study the autoimmune background of human dilated cardiomyopathy
    Wess, Gerhard
    Wallukat, Gerd
    Fritscher, Anna
    Becker, Niels-Peter
    Wenzel, Katrin
    Mueller, Johannes
    Schimke, Ingolf
    PLOS ONE, 2019, 14 (07):
  • [46] Genetic Dilated Cardiomyopathy Due to TTN Variants Without Known Familial Disease
    Brown, Emily E.
    Murray, Brittney
    Vaishnav, Joban
    Tampakakis, Emmanouil
    Barouch, Lili A.
    James, Cynthia
    Murphy, Anne M.
    Judge, Daniel P.
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2020, 13 (06): : 734 - 736
  • [47] Non-segregation of truncating TTN variants in families with dilated cardiomyopathy (DCM)
    Fleming, A. G.
    Brett, L.
    Wilkinson, S.
    John, S.
    Briggs, L.
    Edwards, M.
    Morris-Rosendahl, D. J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 268 - 268
  • [48] Efficacy of Pimobendan in the Prevention of Congestive Heart Failure or Sudden Death in Doberman Pinschers with Preclinical Dilated Cardiomyopathy (The PROTECT Study)
    Summerfield, N. J.
    Boswood, A.
    O'Grady, M. R.
    Gordon, S. G.
    Dukes-McEwan, J.
    Oyama, M. A.
    Smith, S.
    Patteson, M.
    French, A. T.
    Culshaw, G. J.
    Braz-Ruivo, L.
    Estrada, A.
    O'Sullivan, M. L.
    Loureiro, J.
    Willis, R.
    Watson, P.
    JOURNAL OF VETERINARY INTERNAL MEDICINE, 2012, 26 (06) : 1337 - 1349
  • [49] TTN Variants, Dilated Cardiomyopathy, and Arrhythmic Causes by Autopsy Among Countywide Sudden Deaths
    Yee, Matthew
    Salazar, James W.
    Wojciak, Julianne
    Devine, W. Patrick
    Moffatt, Ellen
    Tseng, Zian H.
    JACC-CLINICAL ELECTROPHYSIOLOGY, 2025, 11 (01) : 213 - 216
  • [50] Investigation of titin expression in explanted hearts with familial dilated cardiomyopathy and TTN truncating variants
    Smoktunowicz, N.
    Vikhorev, P.
    Montgiraud, C.
    Copeland, O.
    Munster, A.
    Dos Remedios, C.
    Messer, A.
    Knoll, R.
    Marston, S.
    CARDIOVASCULAR RESEARCH, 2016, 111 : S7 - S7