Cardiovascular Manifestations of Mitochondrial Disease

被引:24
作者
Duran, Jason [1 ]
Martinez, Armando [1 ]
Adler, Eric [1 ]
机构
[1] Univ Calif San Diego, Med Ctr, Dept Cardiol, La Jolla, CA 92037 USA
来源
BIOLOGY-BASEL | 2019年 / 8卷 / 02期
关键词
mitochondrial; genetic mutations; cardiovascular disease; heart failure; cardiomyopathy; HEREDITARY OPTIC NEUROPATHY; CYTOCHROME-C-OXIDASE; STEM-CELL TRANSPLANTATION; PARKINSON-WHITE-SYNDROME; NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MNGIE; LINKED CARDIOSKELETAL MYOPATHY; LEFT-VENTRICULAR MYOCARDIUM; NEUROGENIC MUSCLE WEAKNESS; LETHAL METABOLIC-DISORDER; FETAL-GROWTH-RETARDATION;
D O I
10.3390/biology8020034
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Genetic mitochondrial cardiomyopathies are uncommon causes of heart failure that may not be seen by most physicians. However, the prevalence of mitochondrial DNA mutations and somatic mutations affecting mitochondrial function are more common than previously thought. In this review, the pathogenesis of genetic mitochondrial disorders causing cardiovascular disease is reviewed. Treatment options are presently limited to mostly symptomatic support, but preclinical research is starting to reveal novel approaches that may lead to better and more targeted therapies in the future. With better understanding and clinician education, we hope to improve clinician recognition and diagnosis of these rare disorders in order to improve ongoing care of patients with these diseases and advance research towards discovering new therapeutic strategies to help treat these diseases.
引用
收藏
页数:27
相关论文
共 254 条
  • [71] Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy
    Funalot, B
    Reynier, P
    Vighetto, A
    Ranoux, D
    Bonnefont, JP
    Godinot, C
    Malthièry, Y
    Mas, JL
    [J]. ANNALS OF NEUROLOGY, 2002, 52 (03) : 374 - 377
  • [72] Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations
    Gammage, Payam A.
    Rorbach, Joanna
    Vincent, Anna I.
    Rebar, Edward J.
    Minczuk, Michal
    [J]. EMBO MOLECULAR MEDICINE, 2014, 6 (04) : 458 - 466
  • [73] 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease
    Ganetzky, Rebecca D.
    Falk, Marni J.
    [J]. MOLECULAR GENETICS AND METABOLISM, 2018, 123 (03) : 301 - 308
  • [74] Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
    Garone, Caterina
    Tadesse, Saba
    Hirano, Michio
    [J]. BRAIN, 2011, 134 : 3326 - 3332
  • [75] Cardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndrome
    Gaspard, Gerard J.
    McMaster, Christopher R.
    [J]. CHEMISTRY AND PHYSICS OF LIPIDS, 2015, 193 : 1 - 10
  • [76] Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome
    Gerards, Mike
    Kamps, Rick
    van Oevelen, Jo
    Boesten, Iris
    Jongen, Eveline
    de Koning, Bart
    Scholte, Hans R.
    de Angst, Isabel
    Schoonderwoerd, Kees
    Sefiani, Abdelaziz
    Ratbi, Ilham
    Coppieters, Wouter
    Karim, Latifa
    de Coo, Rene
    van den Bosch, Bianca
    Smeets, Hubert
    [J]. BRAIN, 2013, 136 : 882 - 890
  • [77] Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy
    Giordano, Carla
    Montopoli, Monica
    Perli, Elena
    Orlandi, Maurizia
    Fantin, Marianna
    Ross-Cisneros, Fred N.
    Caparrotta, Laura
    Martinuzzi, Andrea
    Ragazzi, Eugenio
    Ghelli, Anna
    Sadun, Alfredo A.
    d'Amati, Giulia
    Carelli, Valerio
    [J]. BRAIN, 2011, 134 : 220 - 234
  • [78] Never too old to harbour a young man's disease?
    Giraudet, Sylvia
    Lamirel, Cedric
    Amati-Bonneau, Patrizia
    Reynier, Pascal
    Bonneau, Dominique
    Milea, Dan
    Cochereau, Isabelle
    [J]. BRITISH JOURNAL OF OPHTHALMOLOGY, 2011, 95 (06) : 887 - 897
  • [79] Gobu P, 2011, Indian Pacing Electrophysiol J, V10, P547
  • [80] MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS) - A CORRELATIVE STUDY OF THE CLINICAL-FEATURES AND MITOCHONDRIAL-DNA MUTATION
    GOTO, Y
    HORAI, S
    MATSUOKA, T
    KOGA, Y
    NIHEI, K
    KOBAYASHI, M
    NONAKA, I
    [J]. NEUROLOGY, 1992, 42 (03) : 545 - 550