Biochemical and Biophysical Research Communications
Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease
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Mitochondria
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Cited by (115)
The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects
2019, Neurochemistry InternationalCitation Excerpt :Standard Sanger sequencing techniques available during this time were primarily limited to identifying homoplasmic or high-frequency heteroplasmic variants (Howell et al., 2005). A few studies sequenced whole mtDNA (Ikebe et al., 1995; Ozawa et al., 1991), whilst others sequenced all of the mtDNA tRNA (Simon et al., 2000; Grasbon-Frodl et al., 1999; Brown et al., 1996) and rRNA genes (Brown et al., 1996). Furthermore, some employed restriction fragment length polymorphism (RFLP) methods to investigate whether certain mtDNA variants (e.g. m.3397A > G in MT-ND1) associate with PD (Bandmann et al., 1997; Mayr-Wohlfart et al., 1997).
Impairment of mitochondrial tRNA<sup>Ile</sup> processing by a novel mutation associated with chronic progressive external ophthalmoplegia
2011, MitochondrionCitation Excerpt :Specifically, an adult patient presenting with CPEO was found to harbor a substitution (m.4308G>A) in the T-stem of mitochondrial tRNAIle that has not been previously observed. To date 14 substitutions in tRNAIle have been linked to mitochondrial diseases: m.4267A>G (Taylor et al., 2002), m.4269A>G (Degoul et al., 1998; Hayashi et al., 1994; Kaido et al., 1995; Taniike et al., 1992), m.4274T>C (Borthwick et al., 2006; Chinnery et al., 1997), m.4284G>A (Corona et al., 2002), m.4285T>C (Silvestri et al., 1996), m.4290T>C (Limongelli et al., 2004), m.4291T>C (Wilson et al., 2004), m.4295A>G (Merante et al., 1996), m.4298G>A (Taylor et al., 1998), m.4300A>G (Casali et al., 1995; Taylor et al., 2003), m.4302A>G (Berardo et al., 2010), m.4309G>A (Campos et al., 2002; Franceschina et al., 1998), m.4317A>G (Degoul et al., 1998; Obayashi et al., 1992; Ozawa et al., 1991a, 1991b; Tanaka et al., 1990) and m.4320C>T (Santorelli et al., 1995). Seven of them are associated with CPEO (in italics) suggesting that tRNAIle could be a hotspot for CPEO.
Is there a pathogenic role for mitochondria in Parkinson's disease?
2009, Parkinsonism and Related DisordersCitation Excerpt :This striking result was associated with decreased cytochrome c oxidase (i.e. complex IV and not complex I) activity, as evidenced by histochemistry. Aside from the above analyses, sequencing of the mtDNA of patients with PD has generally been done in unselected groups with and without a mitochondrial deficiency [25,26]. Although the results of some reports have suggested increased frequency of specific mtDNA polymorphisms in patients with PD, others have not [27–31].
Mitochondrial DNA, base excision repair and neurodegeneration
2008, DNA RepairMitochondria in the aetiology and pathogenesis of Parkinson's disease
2008, The Lancet NeurologyCitation Excerpt :These results support the proposal that the human substantia nigra is a site of free-radical-mediated damage to mtDNA, and that this damage is enhanced in parkinsonism. Sequencing of the mtDNA of patients with PD has generally been done in unselected groups, with and without a mitochondrial deficiency.25,26 Although the results of some reports have suggested increased frequency of specific mtDNA polymorphisms in patients with PD, this has not been replicated in all studies.27–31
Mitochondria in the etiology of Parkinson's disease
2007, Handbook of Clinical Neurology