Cardiovascular Manifestations of Mitochondrial Disease

被引：26

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

页数：27

共 254 条

[21] Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE) - Report of 3 cases and review of the literature [J].

Blondon, H ;

Polivka, M ;

Joly, F ;

Flourie, B ;

Mikol, J ;

Messing, B .

GASTROENTEROLOGIE CLINIQUE ET BIOLOGIQUE, 2005, 29 (8-9) :773-778

[22]

BOLHUIS PA, 1991, AM J HUM GENET, V48, P481

[23] The neuroimaging of Leigh syndrome: case series and review of the literature [J].

Bonfante, Eliana ;

Koenig, Mary Kay ;

Adejumo, Rahmat B. ;

Perinjelil, Vinu ;

Riascos, Roy F. .

PEDIATRIC RADIOLOGY, 2016, 46 (04) :443-451

[24] X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene [J].

Brady, AN ;

Shehata, BM ;

Fernhoff, PM .

PRENATAL DIAGNOSIS, 2006, 26 (05) :462-465

[25] The role of mitochondria in aging [J].

Bratic, Ana ;

Larsson, Nils-Goran .

JOURNAL OF CLINICAL INVESTIGATION, 2013, 123 (03) :951-957

[26] Mitochondria in the diabetic heart [J].

Bugger, Heiko ;

Abel, E. Dale .

CARDIOVASCULAR RESEARCH, 2010, 88 (02) :229-240

[27] Mitochondrial dysfunction as a cause of optic neuropathies [J].

Carelli, V ;

Ross-Cisneros, FN ;

Sadun, AA .

PROGRESS IN RETINAL AND EYE RESEARCH, 2004, 23 (01) :53-89

[28] Idebenone Treatment In Leber's Hereditary Optic Neuropathy [J].

Carelli, Valerio ;

La Morgia, Chiara ;

Valentino, Maria Lucia ;

Rizzo, Giovanni ;

Carbonelli, Michele ;

De Negri, Anna Maria ;

Sadun, Federico ;

Carta, Arturo ;

Guerriero, Silvana ;

Simonelli, Francesca ;

Sadun, Alfredo Arrigo ;

Aggarwal, Divya ;

Liguori, Rocco ;

Avoni, Patrizia ;

Baruzzi, Agostino ;

Zeviani, Massimo ;

Montagna, Pasquale ;

Barboni, Piero .

BRAIN, 2011, 134

[29] "Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation [J].

Catteruccia, Michela ;

Sauchelli, Donato ;

Della Marca, Giacomo ;

Primiano, Guido ;

Cuccagna, Cristina ;

Bernardo, Daniela ;

Leo, Milena ;

Camporeale, Antonella ;

Sanna, Tommaso ;

Cianfoni, Alessandro ;

Servidei, Serenella .

JOURNAL OF NEUROLOGY, 2015, 262 (03) :701-710

[30] Modulation of electron transport protects cardiac mitochondria and decreases myocardial injury during ischemia and reperfusion [J].

Chen, Qun ;

Camara, Amadou K. S. ;

Stowe, David F. ;

Hoppel, Charles L. ;

Lesnefsky, Edward J. .

AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY, 2007, 292 (01) :C137-C147

← 1 2 3 4 5 6 7 8 9 10 →