Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: A study using a knock-in mouse model

Legal Medicine

Volumn 16, Issue 6, 2014, Pages 326-332

  Nishio, Hajime ^a   Okudaira, Noriyuki ^a   Matsushita, Kazufumi ^a   Yoshimoto, Tomohiro ^a   Sato, Takako ^b   Suzuki, Koichi ^b  

^a HYOGO COLLEGE OF MEDICINE   (Japan)

^b OSAKA MEDICAL COLLEGE   (Japan)

Author keywords

Arrhythmia; Autopsy; Status thymicolymphaticus; Sudden death; Thymus

Indexed keywords

CYTOKINE; RYANODINE RECEPTOR 2; RYANODINE RECEPTOR;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOPSY; BONE MARROW CELL; BRAIN WEIGHT; CARDIAC RYANODINE RECEPTOR GENE; CONTROLLED STUDY; CYTOKINE PRODUCTION; EPITHELIUM CELL; FLOW CYTOMETRY; GENE MUTATION; GENE TARGETING; HEART WEIGHT; HISTOPATHOLOGY; HOMOLOGOUS RECOMBINATION; HOMOZYGOTE; IMMUNOHISTOCHEMISTRY; KIDNEY MASS; LYMPHADENOPATHY; LYMPHOCYTE; LYMPHOID ORGAN; MESENTERY LYMPH NODE; MOUSE; MOUSE MODEL; MUTATIONAL ANALYSIS; NONHUMAN; PHENOTYPE; PROTEIN EXPRESSION; RECEPTOR GENE; SPLEEN CELL; SPLEEN WEIGHT; SUDDEN DEATH; THYMOCYTE; THYMUS; WILD TYPE; ANIMAL; DEATH, SUDDEN, CARDIAC; DISEASE MODEL; ENZYME LINKED IMMUNOSORBENT ASSAY; GENETICS; HYPERTROPHY; KNOCKOUT MOUSE; LYMPHATIC SYSTEM; MUTATION; PATHOLOGY;

ANIMALS; CYTOKINES; DEATH, SUDDEN, CARDIAC; DISEASE MODELS, ANIMAL; ENZYME-LINKED IMMUNOSORBENT ASSAY; FLOW CYTOMETRY; HYPERTROPHY; IMMUNOHISTOCHEMISTRY; LYMPHATIC SYSTEM; MICE; MICE, KNOCKOUT; MUTATION; PHENOTYPE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84908031370     PISSN: 13446223     EISSN: 18734162     Source Type: Journal    
DOI: 10.1016/j.legalmed.2014.06.008     Document Type: Article

References (27)

1. Tester D.J., Medeiros-Domingo A., Will M.L., Haglund C.M., Ackerman M.J. Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc 2012, 87:524-539.
2. Van Petegem F. Ryanodine receptors: structure and function. J Biol Chem 2012, 287:31624-31632.
3. Tiso N., Stephan D.A., Nava A., Bagattin A., Devaney J.M., Stanchi F., et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001, 10:189-194.
4. Priori S.G., Napolitano C., Tiso N., Memmi M., Vignati G., Bloise R., et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001, 103:196-200.
5. Tang Y., Tian X., Wang R., Fill M., Chen S.R. Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies. Circ Res 2012, 110:968-977.
6. Nishio H., Iwata M., Suzuki K. Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphaticus. Circ J 2006, 70:1402-1406.
7. Nishio H., Iwata M., Tamura A., Miyazaki T., Tsuboi K., Suzuki K. Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutation. Leg Med 2008, 10:196-200.
8. Kimlicka L., Tung C.C., Carlsson A.C., Lobo P.A., Yuchi Z., Van Petegem F. The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations. Structure 2013, 21:1440-1449.
9. Bauce B., Rampazzo A., Basso C., Bagattin A., Daliento L., Tiso N., et al. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. J Am Coll Cardiol 2002, 40:341-349.
10. d'Amati G., Bagattin A., Bauce B., Rampazzo A., Autore C., Basso C., et al. Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates. Hum Pathol 2005, 36:761-767.
11. Paltauf A. Über die Beziehung der Thymus zum plötzlichen Tod. Wien Klin Wochenschr 1889, 2:877-881.
12. Gui J., Mustachio L.M., Su D.M., Craig R.W. Thymus size and age-related thymic Involution: early programming, sexual dimorphism, progenitors and stroma. Aging Dis 2012, 3:280-290.
13. Gruver A.L., Sempowski G.D. Cytokines, leptin, and stress-induced thymic atrophy. J Leukoc Biol 2008, 84:915-923.
14. Wang S.D., Huang K.J., Lin Y.S., Lei H.Y. Sepsis-induced apoptosis of the thymocytes in mice. J Immunol 1994, 152:5014-5021.
15. Skinner J.R., Crawford J., Smith W., Aitken A., Heaven D., Evans C.A., et al. Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm 2011, 8:412-419.
16. Ackerman M.J. State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young. Pacing Clin Electrophysiol 2009, 32:S86-S89.
17. Larsen M.K., Berge K.E., Leren T.P., Nissen P.H., Hansen J., Kristensen I.B., et al. Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases. Int J Legal Med 2013, 127:139-144.
18. Symmers D. Status lymphaticus. Am J Med Sci 1918, 156:40-59.
19. Willson D. Status thymicolymphaticus. Presentation and discussion of a case. Curr Res Anesth Analeg 1950, 29:356-358.
20. Young M., Turnbull H.M. An analysis of the data collected by the status lymphaticus investigation committee. J Path Bact 1931, 34:213-258.
21. Matsukura T. Houigaku, 3rd ed. Osaka: Nagai; 1984, p. 383-397 [in Japanese].
22. van Dijk H., Jacobse-Geels H.E. Evidence for the involvement of corticosterone in the ontogeny of the cellular immune apparatus of the mouse. Immunology 1978, 35:637-642.
23. Steffen J.M., Musacchia X.J. Thymic involution in the suspended rat model for weightlessness: decreased glucocorticoid receptor concentration. Physiologist 1984, 27:S39-S40.
24. Giannini G., Conti A., Mammarella S., Scrobogna M., Sorrentino V. The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues. J Cell Biol 1995, 128:893-904.
25. Komazaki S., Ikemoto T., Takeshima H., Iino M., Endo M., Nakamura H. Morphological abnormalities of adrenal gland and hypertrophy of liver in mutant mice lacking ryanodine receptors. Cell Tissue Res 1998, 294:467-473.
26. Herren T., Gerber P.A., Duru F. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare "disease of the desmosome" with multiple clinical presentations. Clin Res Cardiol 2009, 98:141-158.
27. Azaouagh A., Churzidse S., Konorza T., Erbel R. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update. Clin Res Cardiol 2011, 100:383-394.