Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup


Severity of cardiomyopathy associated with adenine
nucleotide translocator-1 deficiency correlates with mtDNA
haplogroup
Submitted by Emmanuel Lemoine on Tue, 02/24/2015 - 16:12

Titre Severity of cardiomyopathy associated with adenine nucleotide translocator-1deficiency correlates with mtDNA haplogroup
Type de
publication Article de revue

Auteur
Strauss, K. A [1], DuBiner, L. [2], Simon, M. [3], Zaragoza, M. [4], Sengupta, P. P [5],
Li, P. [6], Narula, N. [7], Dreike, S. [8], Platt, J. [9], Procaccio, Vincent [10], Ortiz-
Gonzalez, X. R [11], Puffenberger, E. G [12], Kelley, R. I [13], Morton, D. H [14],
Narula, J. [15], Wallace, D. C [16]

Editeur National Academy of Sciences
Type Article scientifique dans une revue à comité de lecture
Année 2013
Langue Anglais
Date 2013
Numéro 9
Pagination 3453 - 8
Volume 110
Titre de la
revue Proceedings of the National Academy of Sciences of the United States of America

ISSN 1091-6490

Mots-clés

Adenine Nucleotide Translocator 1/deficiency/genetics [17], Adolescent [18],
Cardiomyopathies/genetics/pathology/physiopathology [19], Disease Progression
[20], DNA, Mitochondrial/genetics [21], Female [22], Haplotypes/genetics [23],
Homozygote [24], Humans [25], Male [26], Mutation [27],
Myocardium/pathology/ultrastructure [28], Pedigree [29]

http://okina.univ-angers.fr/publications?f[author]=14930
http://okina.univ-angers.fr/publications?f[author]=14931
http://okina.univ-angers.fr/publications?f[author]=14932
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http://okina.univ-angers.fr/publications?f[author]=14934
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http://okina.univ-angers.fr/publications?f[author]=14936
http://okina.univ-angers.fr/publications?f[author]=14937
http://okina.univ-angers.fr/publications?f[author]=14938
http://okina.univ-angers.fr/v.procaccio/publications
http://okina.univ-angers.fr/publications?f[author]=14939
http://okina.univ-angers.fr/publications?f[author]=14939
http://okina.univ-angers.fr/publications?f[author]=14940
http://okina.univ-angers.fr/publications?f[author]=14941
http://okina.univ-angers.fr/publications?f[author]=14942
http://okina.univ-angers.fr/publications?f[author]=14943
http://okina.univ-angers.fr/publications?f[author]=14289
http://okina.univ-angers.fr/publications?f[keyword]=13898
http://okina.univ-angers.fr/publications?f[keyword]=1214
http://okina.univ-angers.fr/publications?f[keyword]=13899
http://okina.univ-angers.fr/publications?f[keyword]=6090
http://okina.univ-angers.fr/publications?f[keyword]=12971
http://okina.univ-angers.fr/publications?f[keyword]=1075
http://okina.univ-angers.fr/publications?f[keyword]=13900
http://okina.univ-angers.fr/publications?f[keyword]=11681
http://okina.univ-angers.fr/publications?f[keyword]=991
http://okina.univ-angers.fr/publications?f[keyword]=968
http://okina.univ-angers.fr/publications?f[keyword]=1133
http://okina.univ-angers.fr/publications?f[keyword]=13901
http://okina.univ-angers.fr/publications?f[keyword]=13394


Résumé en
anglais

Mutations of both nuclear and mitochondrial DNA (mtDNA)-encoded mitochondrial
proteins can cause cardiomyopathy associated with mitochondrial dysfunction.
Hence, the cardiac phenotype of nuclear DNA mitochondrial mutations might be
modulated by mtDNA variation. We studied a 13-generation Mennonite pedigree with
autosomal recessive myopathy and cardiomyopathy due to an SLC25A4 frameshift
null mutation (c.523delC, p.Q175RfsX38), which codes for the heart-muscle isoform
of the adenine nucleotide translocator-1. Ten homozygous null (adenine nucleotide
translocator-1(-/-)) patients monitored over a median of 6 years had a phenotype of
progressive myocardial thickening, hyperalaninemia, lactic acidosis, exercise
intolerance, and persistent adrenergic activation. Electrocardiography and
echocardiography with velocity vector imaging revealed abnormal contractile
mechanics, myocardial repolarization abnormalities, and impaired left ventricular
relaxation. End-stage heart disease was characterized by massive, symmetric,
concentric cardiac hypertrophy; widespread cardiomyocyte degeneration;
overabundant and structurally abnormal mitochondria; extensive subendocardial
interstitial fibrosis; and marked hypertrophy of arteriolar smooth muscle. Substantial
variability in the progression and severity of heart disease segregated with maternal
lineage, and sequencing of mtDNA from five maternal lineages revealed two major
European haplogroups, U and H. Patients with the haplogroup U mtDNAs had more
rapid and severe cardiomyopathy than those with haplogroup H.

URL de la
notice http://okina.univ-angers.fr/publications/ua8411 [30]

DOI 10.1073/pnas.1300690110 [31]
Lien vers le
document http://dx.doi.org/10.1073/pnas.1300690110 [31]

Titre abrégé Proc Natl Acad Sci U S A

Liens
[1] http://okina.univ-angers.fr/publications?f[author]=14930
[2] http://okina.univ-angers.fr/publications?f[author]=14931
[3] http://okina.univ-angers.fr/publications?f[author]=14932
[4] http://okina.univ-angers.fr/publications?f[author]=14933
[5] http://okina.univ-angers.fr/publications?f[author]=14934
[6] http://okina.univ-angers.fr/publications?f[author]=14935
[7] http://okina.univ-angers.fr/publications?f[author]=14936
[8] http://okina.univ-angers.fr/publications?f[author]=14937
[9] http://okina.univ-angers.fr/publications?f[author]=14938
[10] http://okina.univ-angers.fr/v.procaccio/publications
[11] http://okina.univ-angers.fr/publications?f[author]=14939
[12] http://okina.univ-angers.fr/publications?f[author]=14940
[13] http://okina.univ-angers.fr/publications?f[author]=14941
[14] http://okina.univ-angers.fr/publications?f[author]=14942
[15] http://okina.univ-angers.fr/publications?f[author]=14943
[16] http://okina.univ-angers.fr/publications?f[author]=14289
[17] http://okina.univ-angers.fr/publications?f[keyword]=13898
[18] http://okina.univ-angers.fr/publications?f[keyword]=1214
[19] http://okina.univ-angers.fr/publications?f[keyword]=13899
[20] http://okina.univ-angers.fr/publications?f[keyword]=6090
[21] http://okina.univ-angers.fr/publications?f[keyword]=12971
[22] http://okina.univ-angers.fr/publications?f[keyword]=1075
[23] http://okina.univ-angers.fr/publications?f[keyword]=13900

http://okina.univ-angers.fr/publications/ua8411
http://dx.doi.org/10.1073/pnas.1300690110
http://dx.doi.org/10.1073/pnas.1300690110


[24] http://okina.univ-angers.fr/publications?f[keyword]=11681
[25] http://okina.univ-angers.fr/publications?f[keyword]=991
[26] http://okina.univ-angers.fr/publications?f[keyword]=968
[27] http://okina.univ-angers.fr/publications?f[keyword]=1133
[28] http://okina.univ-angers.fr/publications?f[keyword]=13901
[29] http://okina.univ-angers.fr/publications?f[keyword]=13394
[30] http://okina.univ-angers.fr/publications/ua8411
[31] http://dx.doi.org/10.1073/pnas.1300690110

Publié sur Okina (http://okina.univ-angers.fr)

http://okina.univ-angers.fr