Background Image
Table of Contents Table of Contents
Previous Page  68 / 84 Next Page
Information
Show Menu
Previous Page 68 / 84 Next Page
Page Background

CARDIOVASCULAR JOURNAL OF AFRICA • Volume 29, No 2, March/April 2018

130

AFRICA

a point mutation of the mitochondrial tRNA (Leu) gene (m. 3243A

>

G).

J Inherit Metab Dis

2008;

31

(3): 497–503. doi:10.1007/s10545-007-

0735-3.

68. Wang W, Seak CJ, Liao SC, Chiu TF, Chen JC. Cardiac tamponade: a

new complication in a patient with mitochondrial myopathy, encepha-

lopathy, lactic acidosis, and stroke like episodes.

Am J Emerg Med

2008;

26

(3): 382–e1. doi: 10.1016/j.ajem.2007.05.027.

69. Majamaa-Voltti K, Majamaa K, Peuhkurinen K, Mäkikallio T, Huikuri

H. Cardiovascular autonomic regulation in patients with 3243A

>

G

mitochondrial DNA mutation.

Ann Med

2004;

36

(3): 225–231. http://

dx.doi.org/10.1080/07853890410028456.

70. Sweeney MG, Brockington M, Weston MJ, Morgan-Hughes JA,

Harding AE. Mitochondrial DNA transfer RNA mutation Leu (UUR)

A

G 3260: a second family with myopathy and cardiomyopathy.

Q

J Med

1993;

86

(7): 435–438. doi:

http://dx.doi.org/

435-438. PMID:

8210299.

71. Zeviani M, Gellera C, Antozzi C, Rimoldi M, Morandi L, Tiranti V,

et al

. Maternally inherited myopathy and cardiomyopathy: association

with mutation in mitochondrial DNA tRNALeu (UUR).

Lancet

1991;

338

(8760): 143–147. doi:10.1016/0140-6736(91)90136-D.

72. Barišic N, Kleiner IM, Malcic I, Papa J, Boranic M. Spinal dysra-

phism associated with congenital heart disorder in a girl with MELAS

syndrome and point mutation at mitochondrial DNA nucleotide 3271.

Croat Med J

2002;

43

(1): 37–41. PMID: 11828557.

73. Silvestri G, Santorelli FM, Shanske S, Whitley CB, Schimmenti LA,

Smith SA,

et al

. A new mtDNA mutation in the tRNALeu (UUR) gene

associated with maternally inherited cardiomyopathy.

Hum Mutat

1994;

3

(1): 37–43. doi: 10.1002/humu.1380030107.

74. Palecek T, Tesarova M, Kuchynka P, Dytrych V, Elleder M, Hulkova

H,

et al

. Hypertrophic cardiomyopathy due to the mitochondrial DNA

mutation m. 3303C

>

T diagnosed in an adult male.

Int Heart J

2012;

53

(6): 383–387.

http://doi.org/10.1536/ihj.53.383.

75. Hayashi J, Ohta S, Kagawa Y, Takai D, Miyabayashi S, Tada K,

et al

.

Functional and morphological abnormalities of mitochondria in human

cells containing mitochondrial DNA with pathogenic point mutations in

tRNA genes.

J Biol Chem

1994;

269

(29): 19060–19066. PMID: 7518448.

76. Taniike M, Fukushima H, Yanagihara I, Tsukamoto H, Tanaka J,

Fujimura H,

et al

. Mitochondrial tRNAlle mutation in fatal cardio-

myopathy.

Biochem Biophys Res Co

1992;

186

(1): 47–53. doi:10.1016/

s0006-291x(05)80773-9.

77. Giordano C, Perli E, Orlandi M, Pisano A, Tuppen HA, He L,

et al

.

Cardiomyopathies due to homoplasmic mitochondrial tRNA muta-

tions: morphologic and molecular features.

Hum Pathol

2013;

44

(7):

1262–1270.

http://dx.doi.org/10.1016/j.humpath.2012.10.011.

78. Casali C, Santorelli FM, Damati G, Bernucci P, DeBiase L, DiMauro

S. A novel mtDNA point mutation in maternally inherited cardio-

myopathy.

Biochem Biophys Res Co

1995;

213

(2): 588–593. doi:10.1006/

bbrc.1995.2172.

79. Sacconi S, Salviati L, Nishigaki Y, Walker WF, Hernandez-Rosa E,

Trevisson E,

et al

. A functionally dominant mitochondrial DNA

mutation.

Hum Mol Genet

2008;

17

(12): 1814–1820. doi: 10.1093/hmg/

ddn073.

80. Villar P, Bretón B, García-Pavía P, González-Páramos C, Blázquez A,

Gómez-Bueno M,

et al

. Cardiac dysfunction in mitochondrial disease.

Circ J

2013;

77

(11): 2799–2806.

http://doi.org/10.1253/circj.CJ-13-0557.

81. Vallance HD, Jeven G, Wallace DC, Brown MD. A case of sporadic

infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF)

mitochondrial DNA mutation.

Pediatr Cardiol

2004;

25

(5): 538–540.

doi:10.1007/s00246-003-0446-y.

82. Wahbi K, Larue S, Jardel C, Meune C, Stojkovic T, Ziegler F,

et al

.

Cardiac involvement is frequent in patients with the m. 8344A

>

G muta-

tion of mitochondrial DNA.

Neurology

2010;

74

(8): 674–677. http:/​/​dx.​

doi.​org/​10.​1212/​WNL.​0b013e3181d0ccf4.

83. Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram

TZ,

et al

. Maternally inherited cardiomyopathy and hearing loss asso-

ciated with a novel mutation in the mitochondrial tRNA (Lys) gene

(G8363A).

Am J Hum Genet

1996;

58

(5): 933. PMCID: PMC1914622.

84. Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen

AJ, Diepstra JH,

et al

. A novel mitochondrial ATP8 gene mutation in a

patient with apical hypertrophic cardiomyopathy and neuropathy.

J Med

Genet

2008;

45

(3): 129–133. doi:10.1136/jmg.2007.052084.

85. Chamkha I, Alila-Fersi O, Mkaouar-Rebai E, Aloulou H, Kifagi C,

Hachicha M,

et al

. A novel m. 12908T

>

A mutation in the mitochon-

drial ND5 gene in patient with infantile-onset Pompe disease.

Biochem

Biophys Res Co

2012;

429

(1): 31–38.

http://dx.doi.org/10.1016/j.

bbrc.2012.10.105.

86. Wang SB, Weng WC, Lee NC, Hwu WL, Fan PC, Lee WT. Mutation of

mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff–

Parkinson–White syndrome and cardiomyopathy.

Pediat Neonatol

2008;

49

(4): 145–149. doi:10.1016/S1875-9572(08)60030-3.

87. Van Hove JL, Freehauf C, Miyamoto S, Vladutiu GD, Pancrudo J,

Bonilla E,

et al

. Infantile cardiomyopathy caused by the T14709C muta-

tion in the mitochondrial tRNA glutamic acid gene.

Eur J Pediatr

2008;

167

(7): 771–776. doi:10.1007/s00431-007-0587-8.

88. Andreu AL, Checcarelli N, Iwata S, Shanske S, Dimauro S. A missense

mutation in the mitochondrial cytochrome b gene in a revisited case

with histiocytoid cardiomyopathy.

Pediatr Res

2000;

48

(3): 311–314.

doi:10.1203/00006450-200009000-00008.

89. Sahin E, DePinho R. Axis of ageing: telomeres p53 and mitochondria.

Nat Rev Molec Cell Biol

2012;

13

(6): 397–404. doi: 10.1038/nrm3352.

90. Laderman K, Penny J, Mazzucchelli F, Bresolin N, Scarlato G, Attardi

G. Aging-dependent functional alterations of mitochondrial DNA

mtDNA from human fibroblasts transferred into mtDNA-less cells.

J

Biol Chem

1996;

271

: 15891–15897. PMID: 8663253.

91. Pyle A, Anugrha H, Kurzawa-Akanbi M, Yarnall A, Burn D, Hudson

G. Reduced mitochondrial DNA copy number is a biomarker of

Parkinson’s disease.

Neurobiol Aging

2016;

38

: 216.e7-216.e10. http://

dx.doi.org/10.1016/j.neurobiolaging.2015.10.033.

92. Gui Y-X, Xu Z-P, Lv W, Zhao J-J, Hu X-Y. Evidence for polymerase

gamma POLG1 variation in reduced mitochondrial DNA copy number

in Parkinson’s disease.

Parkinsonism Related Disord

2015;

21

: 282–286.

http://dx.doi.org/10.1016/j.parkreldis.2014.12.030.

93. Malik AN, Parsade CK, Ajaz S, Crosby-Nwaobi R, Gnudi L, Czajka A,

et al.

Altered circulating mitochondrial DNA and increased inflamma-

tion in patients with diabetic retinopathy.

Diabetes Res Clin Pract

2015;

110

(3): 257–265. doi: 10.1016/j.diabres.2015.10.006.

94. Czajka A, Ajaz S, Gnudi L, Parsade CK, Jones P, Reid F,

et al

. Altered

mitochondrial function, mitochondrial DNA and reduced metabolic

flexibility in patients with diabetic nephropathy.

EBioMedicine

2015;

2

(6): 499–512. doi:

http://dx.doi.org/10.1016/j.ebiom.2015.04.002.

95. Tyrka AR, Carpenter LL, Kao H-T, Porton B, Philipa NS, Ridout SJ,

et al

. Association of telomere length and mitochondrial DNA copy

number in a community sample of healthy adults.

Exp Gerontol

2015;

66

: 17–20.

http://dx.doi.org/10.1016/j.exger.2015.04.002.

96. Lagouge M, Larsson N. The role of mitochondrial DNA mutations and

free radicals in disease and ageing.

J Intern Med

2013;

273

(6): 529–543.

doi: 10.1111/joim.12055.

97. Pisano A, Cerbelli B, Perli E, Pelullo M, Bargelli V, Preziuso C,

et al

.

Impaired mitochondrial biogenesis is a common feature to myocardial

hypertrophy and end-stage ischemic heart failure.

Cardiovasc Pathol