RNA-mediated restoration of mitochondrial function in cells harboring a Kearns Sayre Syndrome mutation

Mahato, Biraj; Jash, Sukanta; Adhya, Samit

doi:10.1016/j.mito.2011.03.006

Cited by 21 publications

(27 citation statements)

References 37 publications

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“…Inheritance can be autosomal dominant, autosomal recessive, and X-linked. Digenic and mitochondrial inheritance is rare but has also been described [4]. The occurrence of autosomal dominant RP (adRP) varies among different ethnic groups, with an estimated average frequency of 30–40% of RP cases [5].…”

Section: Introductionmentioning

confidence: 99%

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

et al. 2012

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The SNRNP200 gene encodes hBrr2, a helicase essential for pre-mRNA splicing. Six mutations in SNRNP200 have recently been discovered to be associated with autosomal dominant retinitis pigmentosa (adRP). In this work, we analyzed a Chinese family with adRP and identified a novel missense mutation in SNRNP200. To identify the genetic defect in this family, exome of the proband was captured and sequencing analysis was performed to exclude known genetic defects and find possible pathogenic mutations. Subsequently, candidate mutations were validated in affected family members using Sanger sequencing. A novel missense mutation, c.2653C>G transition (p.Q885E), in exon 20 of SNRNP200 was identified. The mutation co-segregated with the disease phenotype over four generations and was absent in 100 normal unaffected individuals. This mutation occurs at highly conserved position in hBrr2 and is predicted to have a functional impact, suggesting that hBrr2-dependent small nuclear riboproteins (snRNPs) unwinding and spliceosome activation is important in the pathogenesis of some variants of RP.

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Section: Introductionmentioning

confidence: 99%

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

et al. 2012

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“…He has developed a carrier complex derived from a protozoal mitochondrial tRNA import complex . This carrier is able to transport polycistronic RNA up to 6.7 kb in length into the mitochondria where resulting mitochondrial translation has been demonstrated (Mahato et al, 2011). Injury to skeletal muscle is accompanied by downregulation of mDNA.…”

Section: Future Strategies For Treatmentmentioning

confidence: 99%

Mitochondria in Health and Disease – 3rd Annual Conference of Society for Mitochondrial Research and Medicine – 19–20 December 2013 — Bengaluru, India

2015

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“…The latter included tRNA Lys , which suggested that the strategy would be suitable to rescue the myoclonic epilepsy with ragged-red fibers (MERRF) syndrome due to a mutation in the mitochondrial tRNA Lys gene. Further studies described organelle import of short antisense RNAs (Mukherjee et al 2008) or long polycistronic-coding RNAs Mahato et al 2011) loaded onto RIC (or a derived sub-complex) and incorporated into human cells ( Fig. 13.4), resulting in decreased respiration or mitochondrial functional rescue, respectively.…”

Section: Rna Import Complexmentioning

confidence: 99%

Mitochondrial Genetic Manipulation

Mileshina

Niazi

Weber-Lotfi

et al. 2015

Somatic Genome Manipulation

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RNA-mediated restoration of mitochondrial function in cells harboring a Kearns Sayre Syndrome mutation

Cited by 21 publications

References 37 publications

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

Mitochondria in Health and Disease – 3rd Annual Conference of Society for Mitochondrial Research and Medicine – 19–20 December 2013 — Bengaluru, India

Mitochondrial Genetic Manipulation

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