Pathogenic, bi-allelic variants in RMND1 typically manifest as an early-onset multisystemic mitochondrial disease, yet the consequences of RMND1 dysfunction in vivo remain poorly understood. To answer this question, we generated and characterized the first in vivo model of RMND1-related disease, carrying the recurrent...
Alba Pesini, M. Sánchez-Quintero, C. López-Gómez et al.· EMBO Molecular Medicine· 0 citations
Quantifying mitochondrial DNA (mtDNA) heteroplasmy is critical for diagnosis, prognosis, and monitoring of mitochondrial disease, particularly that caused by the m.3243 A > G pathogenic variant, where tissue-specific heteroplasmy contributes to disease expression. However, current methods often rely on invasive o...
Charlotte Warren, R. Stefanetti, Isabel Barrow et al.· Communications Medicine· 0 citations
A post-mortem investigation of post-mortem brain tissues from 12 patients with POLG-related mitochondrial epilepsy provides strong neuropathological evidence implicating neuroinflammation and glial dysfunction in POLG-related epilepsy.
Laura A. Smith, Megan Wilson, Elsaid Mohamed Elsaid et al.· bioRxiv· 0 citations
The value of large, well-characterized patient cohorts in identifying modifier loci and advancing knowledge of the mechanisms underlying phenotypic variability in mtDNA disease is highlighted, as each showed the strongest gene-level signals within the linkage region across complementary burden-testing methods.
R. Boggan, Theodora-Dafni Michalettou, Y. Ng et al.· Neurology: Genetics· 0 citations
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