Expanding and validating the biomarkers for mitochondrial diseases
扩展和验证线粒体疾病的生物标志物
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作者：Alessandra Maresca, Valentina Del Dotto, Martina Romagnoli, Chiara La Morgia, Lidia Di Vito, Mariantonietta Capristo, Maria Lucia Valentino, Valerio Carelli; ER-MITO Study Group
Key messages
• FGF21/GDF15 efficiently identifies mitochondrial diseases due to mutations in tRNA genes. • The novel ccf-mtDNA is associated with MELAS and increases during acute events. • Creatine only discriminates severe mitochondrial patients. • FGF21, GDF-15, and ccf-mtDNA are possibly useful for monitoring therapy efficacy.
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