Page 116 - Read Online
P. 116
Page 202 Watson et al. J Transl Genet Genom 2020;4:188-202 I http://dx.doi.org/10.20517/jtgg.2020.31
89. Rahman S, Poulton J, Marchington D, Suomalainen A. Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a
longitudinal study. Am J Hum Genet 2001;68:238-40.
90. Boenzi S, Diodato D. Biomarkers for mitochondrial energy metabolism diseases. Essays Biochem 2018;62:443-54.
91. Davis RL, Liang C, Edema-Hildebrand F, Riley C, Needham M, et al. Fibroblast growth factor 21 is a sensitive biomarker of
mitochondrial disease. Neurology 2013;81:1819-26.
92. Suomalainen A. Fibroblast growth factor 21: a novel biomarker for human muscle-manifesting mitochondrial disorders. Expert Opin Med
Diagn 2013;7:313-7.
93. Lehtonen JM, Forsström S, Bottani E, Viscomi C, Baris OR, et al. FGF21 is a biomarker for mitochondrial translation and mtDNA
maintenance disorders. Neurology 2016;87:2290-9.
94. Forsström S, Jackson CB, Carroll CJ, Kuronen M, Pirinen E, et al. Fibroblast growth factor 21 drives dynamics of local and systemic
stress responses in mitochondrial myopathy with mtDNA deletions. Cell Metab 2019;30:1040-54.e7.
95. Kalko SG, Paco S, Jou C, Rodríguez MA, Meznaric M, et al. Transcriptomic profiling of TK2 deficient human skeletal muscle suggests
a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial
myopathies. BMC Genomics 2014;15:91.
96. Davis RL, Liang C, Sue CM. A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases. Neurology
2016;86:2010-5.
97. Yatsuga S, Fujita Y, Ishii A, Fukumoto Y, Arahata H, et al. Growth differentiation factor 15 as a useful biomarker for mitochondrial
disorders. Ann Neurol 2015;78:814-23.
98. Ji X, Zhao L, Ji K, Zhao Y, Li W, et al. Growth differentiation factor 15 Is a novel diagnostic biomarker of mitochondrial diseases. Mol
Neurobiol 2017;54:8110-6.
99. Montero R, Yubero D, Villarroya J, Henares D, Jou C, et al. GDF-15 is elevated in children with mitochondrial diseases and is induced by
mitochondrial dysfunction. PLoS One 2016;11:e0148709.
100. Poulsen NS, Madsen KL, Hornsyld TM, Eisum AV, Fornander F, et al. Growth and differentiation factor 15 as a biomarker for
mitochondrial myopathy. Mitochondrion 2020;50:35-41.
101. Tsygankova PG, Itkis YS, Krylova TD, Kurkina MV, Bychkov IO, et al. Plasma FGF-21 and GDF-15 are elevated in different inherited
metabolic diseases and are not diagnostic for mitochondrial disorders. J Inherit Metab Dis 2019;42:918-33.
102. Picardi E, Pesole G. Mitochondrial genomes gleaned from human whole-exome sequencing. Nat Methods 2012;9:523-4.
103. Ross MG, Russ C, Costello M, Hollinger A, Lennon NJ, et al. Characterizing and measuring bias in sequence data. Genome Biol
2013;14:R51.
104. Posey JE. Genome sequencing and implications for rare disorders. Orphanet J Rare Dis 2019;14:153.
105. Barbitoff YA, Polev DE, Glotov AS, Serebryakova EA, Shcherbakova IV, et al. Systematic dissection of biases in whole-exome and
whole-genome sequencing reveals major determinants of coding sequence coverage. Sci Rep 2020;10:2057.
106. Bris C, Goudenege D, Desquiret-Dumas V, Charif M, Colin E, et al. Bioinformatics tools and databases to assess the pathogenicity of
mitochondrial DNA variants in the field of next generation sequencing. Front Genet 2018;9.