Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease

Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease

Background and ObjectivesImproved detection sensitivity from combined Long-Range PCR (LR-PCR), Next-Generation Sequencing (NGS), and droplet digital PCR (ddPCR) to identify multiple large-scale mtDNA deletions (MLSMD) and quantify deletion heteroplasmy have introduced clinical interpretation challen...

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Main Authors: Jing Wang, James T. Peterson, Joaquim Diego D. Santos, Ada J. S. Chan, Maria Alejandra Diaz-Miranda, Imon Rahaman, Jean Flickinger, Amy Goldstein, Emily Bogush, Elizabeth M. McCormick, Colleen C. Muraresku, Vernon E. Anderson, Matthew C. Dulik, Douglas C. Wallace, Rui Xiao, Marni J. Falk, Angela N. Viaene, Zarazuela Zolkipli-Cunningham
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Pharmacology
Subjects:
primary mitochondrial disease (PMD)
mitochondrial DNA (mtDNA)
electron transport chain (ETC) enzymatic activity
ragged red fibers (RRF)
ragged blue fibers (RBF)
multiple large-scale mitochondrial DNA deletions (MLSMD)
Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2025.1507493/full
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https://www.frontiersin.org/articles/10.3389/fphar.2025.1507493/full

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