Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2059
Abstract: Kearns‐Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction anomalies. In most cases KSS is… read more here.
Keywords: sayre syndrome; mtdna deletion; kearns sayre; mtdna ... See more keywords
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8409-z
Abstract: The sporadic occurrence of a mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO), Kearns–Sayre syndrome (KSS, MIM 530000), and in infancy, Pearson syndrome (MIM 557000) may suggest the presence of a single, sporadic mitochondrial DNA… read more here.
Keywords: chronic progressive; ophthalmoplegia; dna; mtdna ... See more keywords
Thermodynamic analysis of DNA hybridization signatures near mitochondrial DNA deletion breakpoints
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DOI: 10.1016/j.isci.2021.102138
Abstract: Summary Broad evidence in the literature supports double-strand breaks (DSBs) as initiators of mitochondrial DNA (mtDNA) deletion mutations. While DNA misalignment during DSB repair is commonly proposed as the mechanism by which DSBs cause deletion… read more here.
Keywords: dna; analysis; deletion; mtdna deletion ... See more keywords
Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "BMB reports"
DOI: 10.5483/bmbrep.2022-0204
Abstract: Screening for genetic defects in the cells should be examined for clinical application. The Pearson syndrome (PS) patient harbored nuclear mutations in the POLG and SSBP1 genes, which could induce systemic large-scale mitochondrial genome (mtDNA)… read more here.
Keywords: mtdna deletion; deletion; pearson syndrome; autologous cell ... See more keywords