Online citations, reference lists, and bibliographies.
← Back to Search

Mitochondrial Disorders Causing Cardioskeletal Myopathies In Childhood

Sirisak Chanprasert, W. Craigen
Published 2017 · Biology

Cite This
Download PDF
Analyze on Scholarcy
Share
Abstract Mitochondria are important organelles that are found in all nucleated human cells. They perform a variety of essential functions, including hosting pathways of intermediary metabolism, generating cellular energy in a form of adenosine trinucleotide phosphate, maintaining calcium homeostasis in excitable cell types, charging the creatine kinase circuit in muscle and brain, regulating cell death programs such as apoptosis, and participating in cell cycle control through retrograde signaling. Genetic mitochondrial disorders can result in deleterious effects on tissues that have high energy demands such as skeletal muscle, brain, and heart, but can also lead to disorders of virtually any organ or cell type. Defects in mitochondrial DNA can give rise to mitochondrial respiratory chain disorders, as can a large number of nuclear gene defects, often manifesting as skeletal and cardiac muscle disease. In addition, given the dependence of muscle on fatty acids for energy, certain long chain fatty acid oxidation disorders can mimic respiratory chain disorders. In this chapter, we will review a variety of mitochondrial disorders and their impact on cardiac function.
This paper references
10.1086/302154
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
J. Loeffen (1998)
10.1203/00006450-199411000-00007
Rate-Dependent Distal Renal Tubular Acidosis and Carnitine Palmitoyltransferase I Deficiency
A. Bergman (1994)
10.1136/jnnp.62.2.169
Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.
J. Schaefer (1997)
10.2147/IJGM.S65560
Kearns–Sayre syndrome: a case series of 35 adults and children
Sherezade Khambatta (2014)
10.1212/WNL.0b013e31823a0c7f
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype
P. Kaufmann (2011)
10.1253/circj.CJ-15-0742
Mitochondrion as a Target for Heart Failure Therapy- Role of Protein Lysine Acetylation.
C. F. Lee (2015)
10.1212/01.wnl.0000216136.61640.79
A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA
K. Majamaa-Voltti (2006)
10.1093/nar/gkv1003
MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins
S. Calvo (2016)
10.1203/00006450-200009000-00008
A Missense Mutation in the Mitochondrial Cytochrome b Gene in a Revisited Case with Histiocytoid Cardiomyopathy
A. Andreu (2000)
10.1002/(SICI)1097-4598(199703)20:3<271::AID-MUS2>3.0.CO;2-8
Myoclonus epilepsy associated with ragged‐red fibers: A G‐to‐A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families
M. Ozawa (1997)
10.1007/s10545-015-9871-3
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate
F. Djouadi (2015)
10.1093/eurheartj/ehs275
Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management
M. Bates (2012)
10.1093/hmg/ddq254
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
J. Mayr (2010)
10.1177/1087057113493006
OCTN Cation Transporters in Health and Disease
L. Pochini (2013)
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.
F. Merante (1994)
10.1086/345489
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
H. Antonicka (2003)
10.1152/physrev.00015.2009
Myocardial fatty acid metabolism in health and disease.
G. Lopaschuk (2010)
10.1136/hrt.80.3.292
A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
Y. Okajima (1998)
10.1038/ng.246
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
Alena Čížková (2008)
10.1161/CIRCULATIONAHA.107.691808
Mitochondrial Cardiomyopathy Evaluated With Cardiac Magnetic Resonance
M. Nakanishi (2007)
10.1152/ajpheart.00708.2014
Mending a broken heart: the role of mitophagy in cardioprotection.
Alexandra G. Moyzis (2015)
10.1186/1471-2261-2-12
Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G
K. Majamaa-Voltti (2002)
10.1007/s10863-015-9601-4
Mitochondrial phospholipids: role in mitochondrial function
E. Mejía (2015)
10.1542/peds.2013-4254
Favorable Outcome After Physiologic Dose of Sodium-d,l-3-Hydroxybutyrate in Severe MADD
Willemijn J. van Rijt (2014)
10.1212/WNL.0b013e318294b44c
Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation
M. Mancuso (2013)
10.1038/nm.3545
Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies
G. Wang (2014)
10.1016/J.BBABIO.2004.09.005
The epidemiology of mitochondrial disorders--past, present and future.
A. Schaefer (2004)
10.1016/j.ceca.2009.03.012
Role of cardiolipin peroxidation and Ca2+ in mitochondrial dysfunction and disease.
G. Paradies (2009)
10.1016/S0022-3476(99)70022-3
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.
C. Bruno (1999)
10.1016/0002-9149(87)90255-4
Cardiac involvement in the Kearns-Sayre syndrome.
J. Gallastegui (1987)
10.1016/j.ceb.2015.01.002
PINK1/Parkin-mediated mitophagy in mammalian cells.
Akinori Eiyama (2015)
10.1002/ajmg.a.37144
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation
M. Ziats (2015)
10.1002/ajmg.c.30087
Disorders of carnitine transport and the carnitine cycle
N. Longo (2006)
10.1371/journal.pone.0048628
Human Trifunctional Protein Alpha Links Cardiolipin Remodeling to Beta-Oxidation
W. Taylor (2012)
10.1016/j.ejmg.2015.01.005
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.
Xiyuan Li (2015)
10.1542/peds.2004-0718
Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease
F. Scaglia (2004)
10.1093/HMG/8.12.2247
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
A. Koizumi (1999)
10.1007/BF01936921
The genetic code in mitochondria and chloroplasts
T. Jukes (2005)
10.1212/WNL.0b013e31827b1a2f
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation
E. Malfatti (2013)
10.1016/j.bbalip.2013.11.014
MAM (mitochondria-associated membranes) in mammalian cells: lipids and beyond.
J. Vance (2014)
10.1002/AJMG.1320500310
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).
G. Pastores (1994)
10.1212/WNL.49.2.598
A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNALeu(UUR) 3254C-to-G
T. Kawarai (1997)
10.1007/s10545-015-9894-9
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
R. Carrozzo (2015)
10.1007/s10545-008-1005-8
Metabolism as a complex genetic trait, a systems biology approach: Implications for inborn errors of metabolism and clinical diseases
J. Vockley (2008)
10.1016/j.cmet.2014.04.015
ROS-triggered phosphorylation of complex II by Fgr kinase regulates cellular adaptation to fuel use.
R. Acín-Pérez (2014)
10.1002/humu.22715
Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy
F. Baertling (2015)
10.1086/302188
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation.
F. Santorelli (1999)
10.1007/s10545-014-9778-4
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease
A. Broomfield (2014)
10.1007/s10545-014-9748-x
Lipid metabolism in mitochondrial membranes
J. Mayr (2014)
10.1016/j.braindev.2014.10.005
Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response
N. Vatanavicharn (2015)
10.1093/HMG/DDI303
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders.
F. Djouadi (2005)
10.1186/1750-1172-7-83
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
A. Bosch (2012)
10.1007/s10545-014-9708-5
Mitochondrial transporters of the SLC25 family and associated diseases: a review
F. Palmieri (2014)
10.1023/A:1005694320063
Features of carnitine palmitoyltransferase type I deficiency
S. Olpin (2001)
10.1161/CIRCRESAHA.116.306374
How mitochondrial dynamism orchestrates mitophagy.
O. Shirihai (2015)
10.1016/j.ymgme.2011.05.001
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
Guo-li Wang (2011)
10.1016/j.nmd.2004.06.004
Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene
B. J. Bosch (2004)
10.1136/adc.79.1.22
Clinical and laboratory findings in referrals for mitochondrial DNA analysis
P. Lamont (1998)
10.1016/j.jacc.2008.02.032
ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemaker
A. Epstein (2008)
10.1038/srep00013
Phylogenomic evidence for a common ancestor of mitochondria and the SAR11 clade
J. C. Thrash (2011)
10.1016/j.exger.2014.03.027
In D-loop: 40years of mitochondrial 7S DNA
T. Nicholls (2014)
10.1111/j.1399-3046.2007.00719.x
Cardiac transplantation in a 14‐yr‐old patient with mitochondrial encephalomyopathy
D. Schmauss (2007)
10.1093/HMG/DDG284
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
H. Antonicka (2003)
10.1016/j.ajhg.2008.05.002
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
Valeria Massa (2008)
10.1016/j.jacc.2011.06.011
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the American Association for Thoracic Surgery, American Soci
B. Gersh (2011)
10.1023/B:BOLI.0000028839.57386.88
The early-onset phenotype of mitochondrial trifunctional protein deficiency: A lethal disorder with multiple tissue involvement
U. Spiekerkoetter (2004)
10.1093/brain/awt086
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
A. Jonckheere (2013)
10.1006/BBRC.1995.2172
A novel mtDNA point mutation in maternally inherited cardiomyopathy.
C. Casali (1995)
10.1016/S0005-2728(98)00032-2
Human complex I defects in neurodegenerative diseases.
A. Schapira (1998)
10.1146/annurev-physiol-021115-105045
The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders.
S. Houten (2016)
10.1093/eurjhf/hfp186
Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease
G. Limongelli (2010)
10.1002/HUMU.10225
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
P. Bénit (2003)
10.1016/j.biochi.2013.09.017
To be or not to be a nucleoid protein: a comparison of mass-spectrometry based approaches in the identification of potential mtDNA-nucleoid associated proteins.
F. Hensen (2014)
10.1016/S0025-6196(12)61064-7
The changing face of disorders of fatty acid oxidation.
J. Vockley (1994)
10.1016/S0960-8966(03)00039-7
Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes
Y. Campos (2003)
10.1093/hmg/ddt309
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency
V. Boczonadi (2013)
10.1016/J.AMJCARD.2006.07.089
Cardiac involvement in adults with m.3243A>G MELAS gene mutation.
T. Vydt (2007)
10.1016/J.MAM.2004.06.004
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.
J. Bonnefont (2004)
10.1242/jcs.093609
Interactions between sarco-endoplasmic reticulum and mitochondria in cardiac and skeletal muscle – pivotal roles in Ca2+ and reactive oxygen species signaling
V. Eisner (2013)
10.1007/8904_2014_382
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.
I. Vitoria (2015)
10.1016/S0022-3476(05)82532-6
Fatty acid oxidation disorders: a new class of metabolic diseases.
D. Hale (1992)
10.1136/heart.86.5.570
Heart transplantation in children with mitochondrial cardiomyopathy
D. Bonnet (2001)
10.1196/annals.1320.004
Carnitine Deficiency Disorders in Children
C. Stanley (2004)
10.1096/fj.11-197376
Two protein kinase C isoforms, δ and ε, regulate energy homeostasis in mitochondria by transmitting opposing signals to the pyruvate dehydrogenase complex
J. Gong (2012)
10.1101/cshperspect.a011080
The mitochondrial nucleoid: integrating mitochondrial DNA into cellular homeostasis.
R. Gilkerson (2013)
10.1016/j.ymgme.2009.12.015
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
N. Lee (2010)
10.1161/CIRCHEARTFAILURE.111.963900
Mitochondrial A3243G mutation with manifestation of acute dilated cardiomyopathy.
Nicolas Stalder (2012)
10.1016/j.ymgme.2015.08.011
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
M. Miller (2015)
10.1007/s10545-015-9831-y
Spectrum of combined respiratory chain defects
J. Mayr (2015)
10.1212/WNL.43.6.1200
Clinical features associated with the A → G transition at nucleotide 8344 of mtDNA (“MERRF mutation”)
G. Silvestri (1993)
10.1016/j.ajhg.2012.04.011
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
D. Ghezzi (2012)
10.1016/j.ajhg.2014.10.017
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Robert Kopajtich (2014)
10.1002/1531-8249(20010201)49:2<195::AID-ANA39>3.0.CO;2-M
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
J. Loeffen (2001)
10.1016/S0006-291X(05)80773-9
Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy.
M. Taniike (1992)
10.1016/j.ymgme.2008.02.002
Cardiomyopathy and carnitine deficiency.
Cristina Amat di San Filippo (2008)
10.1038/15513
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
L. C. Papadopoulou (1999)
10.1177/088307389400900102
Topical Review: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes (MELAS): Current Concepts
M. Hirano (1994)
10.1016/j.cmet.2014.10.006
γ-Butyrobetaine is a proatherogenic intermediate in gut microbial metabolism of L-carnitine to TMAO.
Robert A. Koeth (2014)
10.1203/01.PDR.0000103931.80055.06
General Mitochondrial Trifunctional Protein (TFP) Deficiency as a Result of Either α- or β-Subunit Mutations Exhibits Similar Phenotypes Because Mutations in Either Subunit Alter TFP Complex Expression and Subunit Turnover
U. Spiekerkoetter (2004)
10.1007/s10545-014-9774-8
TMEM70 deficiency: long-term outcome of 48 patients
M. Magner (2014)
10.1080/15476286.2015.1058686
Localized translation near the mitochondrial outer membrane: An update
C. Lesnik (2015)
10.1093/HMG/8.11.1967
A novel deficiency of mitochondrial ATPase of nuclear origin.
J. Houštěk (1999)
10.1016/j.ymgme.2013.07.009
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Sirisak Chanprasert (2013)
10.1007/s004390050988
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency
I. Valnot (1999)
10.1016/0002-8703(94)90272-0
Cardiomyopathy and angiopathy in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
W. Sato (1994)
10.1007/BF00795646
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) decrease in diastolic left ventricular function assessed by echocardiography
Y. Suzuki (2004)
10.1007/s00109-015-1254-6
Mitophagy and heart failure
S. Shires (2015)
10.1038/ejhg.2014.85
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy
U. N. Abdulhag (2015)
10.1042/BST0280177
The mitochondrial trifunctional protein: centre of a beta-oxidation metabolon?
S. Eaton (2000)
10.1016/0140-6736(91)90136-D
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)
M. Zeviani (1991)
10.1007/s00246-015-1260-z
Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience
S. Kang (2015)
10.1371/journal.pone.0015687
Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes
B. Sadikovic (2010)
10.1093/HMG/10.5.529
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
V. Petruzzella (2001)
10.1002/(SICI)1097-4598(199612)19:12<1603::AID-MUS10>3.0.CO;2-S
The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)
I. Nishino (1996)
10.1016/S0167-5273(02)00040-2
Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayre syndrome.
K. Katsanos (2002)
10.1186/s13023-014-0117-5
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
S. Grünert (2014)
10.1038/pr.2014.154
Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency–related leukodystrophy
M. Gautschi (2015)
10.4081/cp.2013.e22
Rhabdomyolysis as a Presenting Manifestation of Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
S. Oliveira (2013)



Semantic Scholar Logo Some data provided by SemanticScholar