Background Image
Table of Contents Table of Contents
Previous Page  69 / 84 Next Page
Information
Show Menu
Previous Page 69 / 84 Next Page
Page Background

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

AFRICA

131

2016;

25

(2): 103–112.

http://dx.doi.org/10.1016/j.carpath.2015.09.009.

98. Hao X-D, Chen P, Wang Y, Li S-X, Xie L-X. Mitochondrial DNA

copy number but not haplogroup is associated with keratoconus in

Han Chinese population.

Exp Eye Res

2015;

132

: 59–63.

http://dx.doi.

org/10.1016/j.exer.2015.01.016.

99. Bersani FS, Morley C, Lindqvist D, Epel ES, Picard M, Yehuda R,

et

al

. Mitochondrial DNA copy number is reduced in male combat veter-

ans with PTSD.

Prog Neuro-Psychoph

2016;

64

: 10–17.

http://dx.doi.

org/10.1016/j.pnpbp.2015.06.012.

100. Van Oven M, Kayser M. Updated comprehensive phylogenetic tree of

global human mitochondrial DNA variation.

Hum Mutat

2009;

30

(2):

E386–394. doi: 10.1002/humu.20921.

101. Hudson G, Gomez-Duran A, Wilson IJ, Chinnery PF. Recent mitochon-

drial DNA mutations increase the risk of developing common late-onset

human diseases.

PLoS Genet

2014;

10

(5): e1004369. doi:10.1371/journal.

pgen.1004369.

102. Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P,

et

al

. Severity of cardiomyopathy associated with adenine nucleotide trans-

locator-1 deficiency correlates with mtDNA haplogroup.

Proc Natl Acad

Sci USA

2013;

110

: 3453–3458. doi: 10.1073/pnas.1300690110.

103. Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini

S,

et al

. Natural selection shaped regional mtDNA variation in

humans.

Proc Natl Acad Sci USA.

2003;

100

(1): 171–176. doi:10.1073/

pnas.0136972100.

104. Ji F, Sharpley M, Derbeneva O, Alves L, Qian P, Wang Y,

et al

.

Mitochondrial DNA variant associated with Leber hereditary optic

neuropathy and high-altitude Tibetans.

Proc Natl Acad Sci USA

2012;

109

(19): 7391–7396. doi: 10.1086/519394.

105. Wallace DC. Mitochondrial DNA variation in human radiation and

disease.

Cell

2015;

163

(1): 33–38. doi:10.1016/j.cell.2015.08.067.

106. Moilanen J, Finnilä S, Majamaa K. Lineage-specific selection in human

mtDNA: lack of polymorphisms in a segment of MTND5 gene in

haplogroup J.

Molec Biol Evol

2003;

20

: 2132–2142. doi: 10.1093/

molbev/msg230.

107. Elson JL, Turnbull DM, Howell N. Comparative genomics and the

evolution of human mitochondrial DNA: assessing the effects of selec-

tion.

Am J Hum Genet

2004;

74

: 229–238. doi: 10.1086/381505.

108. Amo T, Brand M. Were inefficient mitochondrial haplogroups selected

during migrations of modern humans? A test using modular kinetic

analysis of coupling in mitochondria from cybrid cell lines.

Biochem J

2007;

404

: 345–351. doi:10.1042/bj20061609.

109. Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis K,

et al

. The role of

selection in the evolution of human mitochondrial genomes.

Genetics

2006;

172

: 373–387. doi: 10.1534/genetics.105.043901.

110. Howell N, Howell C, Elson JL. Molecular clock debate: Time depend-

ency of molecular rate estimates for mtDNA: this is not the time for

wishful thinking.

Heredity

2008; 107–108. doi:10.1038/hdy.2008.52.

111. Elson JL, Herrnstadt C, Preston G, Thal L, Morris CM, Edwardson

JA,

et al

. Does the mitochondrial genome play a role in the etiology

of Alzheimer’s disease?

Hum Genet

2006;

119

: 241–254. doi 10.1007/

s00439-005-0123-8.

112. Maruszak A,

Ż

ekanowski C. Mitochondrial dysfunction and

Alzheimer’s disease.

Prog Neuro-Psychoph

2011;

35

(2): 320–330. doi:

10.1016/j.pnpbp.2010.07.004.

113. Crispim D, Canani LH, Gross JL, Tschiedel B, Souto KE, Roisenberg

I. The European-specific mitochondrial cluster J/T could confer an

increased risk of insulin-resistance and type 2 diabetes: an analysis of

the m.4216T

>

C and m.4917A

>

G variants.

Ann Hum Genet

2006;

70

(Pt

4): 488–495. doi: 10.1111/j.1469-1809.2005.00249.x.

114. Li S, Besenbacher S, Li Y, Kristiansen K, Grarup N, Albrechtsen A,

et

al

. Variation and association to diabetes in 2000 full mtDNA sequences

mined from an exome study in a Danish population.

Eur J Hum Genet

2014;

22

: 1040–1045. doi:10.1038/ejhg.2013.282.

115. Chinnery PF, Mowbray C, Patel S, Elson JL, Sampson M, Hitman G,

et al

. Mitochondrial DNA haplogroups and type 2 diabetes: a study of

897 cases and 1010 controls.

J Med Genet

2007;

44

(6): e80.

http://dx.doi

.

org/10.1136/jmg.2007.048876.

116. Achilli A, Olivieri A, Pala M, Hooshiar Kashani B, Carossa V, Perego

UA,

et al

. Mitochondrial DNA backgrounds might modulate diabetes

complications rather than T2DM as a whole.

PloS One

2011;

6

(6):

e21029. doi:10.1371/journal.pone.0021029.

117. Flaquer A, Baumbach C, Kriebel J, Meitinger T, Peters A, Waldenberger

M,

et al

. Mitochondrial genetic variants identified to be associated with

BMI in adults.

PLoS One

2014;

9

(8): e105116. doi:10.1371/journal.

pone.0105116.

118. Chinnery PF, Elliott HR, Syed A, Rothwell PM, Oxford vascular study.

Mitochondrial DNA haplogroups and risk of transient ischaemic attack

and ischaemic stroke: a genetic association study.

Lancet Neurol

2010;

9

(5): 498–503. doi: 10.1016/S1474-4422(10)70083-1.

119. Elango S, Govindaraj P, Vishwanadha VP, Reddy G, Tamang R,

Muthusami U,

et al

. Analysis of mitochondrial genome revealed a

rare 50 bp deletion and substitutions in a family with hypertension.

Mitochondrion

2011;

11

: 878–885. doi:10.1016/j.mito.2011.07.002.

120. Govindaraj P, Khanb NA, Rani B, Rani DS, Selvaraj P, Jyothi V,

et al

.

Mitochondrial DNA variations associated with hypertrophic cardio-

myopathy.

Mitochondrion

2014;

16

:65–72.

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

mito.2013.10.006.

121. Salas A, Elson JL. Raising doubts about the pathogenicity of mito-

chondrial DNA mutation m.3308T

>

C in left ventricular hyper-

traveculation/compactation.

Cardiology

2011;

122

(2): 113–115. doi:

10.1159/000339348.

122. Salas A, Elson JL. Mitochondrial DNA as a risk factor for false posi-

tives in case-control association studies.

J Genet Genomics

2015;

42

(4):

169–172.

http://dx.doi.org/10.1016/j.jgg.2015.03.002.

123. Samuels DC, Carothers AD, Horton R, Chinnery PF. The power to

detect disease associated with mitochondrial DNA haplogroups.

Am

J Hum Genet

2006;

78

(4): 713–720.

http://dx.doi.org/10.1086/502682.

124. Pereira L, Soares P, Radivoiac P, Li B, Samuels DC. Comparing phylog-

eny and the predicted pathogenicity of protein variations reveals equal

purifying selection across the global human mtDNA diversity.

Am J

Hum Genet

2011;

88

(4): 433–439. doi 10.1016/j.ajhg.2011.03.006.

125. Nakagawa Y, Ikegami H, Yamato E, Takekawa K, Fujisawa T, Hamada

Y,

et al

. A new mitochondrial DNA mutation associated with non-

insulin-dependent diabetes mellitus.

Biochim Biophys Res Commun

1995;

209

: 664–668. doi:10.1006/bbrc.1995.1550.

126. López-Gallardo E, Iceta R, Iglesias E, Montoya J, Ruiz-Pesini E.

OXPHOS toxicogenomics and Parkinson’s disease.

Mutat Res Rev

Mutat

2011;

728

(3): 98–106. doi: 10.1016/j.mrrev.2011.06.004.

127. López-Gallardo E, Llobet L, Emperador S, Montoya J, Ruiz-Pesini

E. Effects of tributyltin chloride on cybrids with or without an ATP

synthase pathologic mutation

. Environ Health Perspect

2016;

124

:

1399–1405.

http://dx.doi.org/10.1289/ehp182.

128. Thusberg J, Olatubosun A, Vihinen M. Performance of mutation patho-

genicity prediction methods on missense variants.

Hum Mutat

2011;

32

(4): 358–368. doi: 10.1002/humu.21445.

129. Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN,

et al

.

Automated inference of molecular mechanisms of disease from amino

acid substitutions.

Bioinformatics

2009;

25

(21): 2744–2750. doi:10.1093/

bioinformatics/btp528.

130. Venter M, Malan L, van Dyk E, Elson JL, van der Westhuizen FH.