Mutational analysis of mitochondrial DNA of children with Rett syndrome

Tang, Ju; Qi, Yu; Bao, Xinhua; Wu, Xiru

doi:10.1016/s0887-8994(97)00151-3

Cited by 29 publications

(11 citation statements)

References 13 publications

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“…Other known disease mutations have been described in the 16s rRNA region. These include diabetes (3203G; 3204T) (Yang et al ., 2000), Rett syndrome (2835T) (Tang et al ., 1997; Cardaioli et al ., 1999), mitochondrial encephalomyopathy lactic acidosis and stroke‐like episodes (MELAS) (3093G) (Hsieh et al ., 2001) and Alzheimer's disease and Parkinson's disease (APDP) (3196A) (Wallace et al ., 1992; Shoffner et al ., 1993).…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial mutation detection using enhanced multiplex denaturing high‐performance liquid chromatography

Bayat

Walter

Lamb

et al. 2005

Int J Immunogenetics

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In this study, we investigated the presence of mutations within the mitochondrial genome in 40 Caucasian subjects using an enhanced multiplex denaturing high-performance liquid chromatography (DHPLC) approach. The enhanced DHPLC approach has increased sensitivity and throughput, and reduced analysis time per individual sample compared to conventional methods. This technique involved amplifying the mitochondrial genome in 18 fragments ranging in size from 300 to 2000 bp using a novel proofreading polymerase (Optimase, Transgenomic Inc., Omaha, NE) with a low misincorporation rate. Fourteen of these fragments underwent subsequent restriction digestion using a combination of five restriction enzymes to enable multiplex DHPLC analysis; the remaining four underwent conventional DHPLC. Using this complete mitochondrial genome-screening approach, we confirmed a number of previously reported mutations and additionally identified a large number of novel mutations using an enhanced DHPLC technique.

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Section: Discussionmentioning

confidence: 99%

Mitochondrial mutation detection using enhanced multiplex denaturing high‐performance liquid chromatography

Bayat

Walter

Lamb

et al. 2005

Int J Immunogenetics

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“…The ultrastructural and biochemical findings, along with the maternal inheritance pattern, suggested that mtDNA mutations might play an important role in RTT. A point mutation in 16S ribosomal RNA was found in 7 of 15 affected females and 6 of their mothers [Tang et al, 1997]. However, Cardaioli et al [1999] did not find this mutation in 26 classical RTT patients.…”

Section: Discussionmentioning

confidence: 99%

Infantile hypotonia as a presentation of rett syndrome

2002

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Rett syndrome (RTT) is classically defined by meeting certain clinical diagnostic criteria. It affects mostly females, and one possible pathogenic mechanism was considered to involve mitochondrial function. This was based on the finding of ultrastructural alterations in the mitochondria and decreased respiratory chain enzyme activity. However, the principal etiology of RTT has since been found to be mutations in the MECP2 gene, which is located on the X chromosome. Molecular analysis has allowed the phenotype of MECP2 mutations to be broadened beyond RTT to include girls who have mild mental retardation, autism, and an Angelman syndrome phenotype, as well as males with severe encephalopathy. We present a girl with a previously described mutation in the MECP2 gene whose phenotype is of atypical RTT. She presented with hypotonia and developmental delay in infancy without a clear period of normal development. As part of her evaluation for hypotonia, a muscle biopsy and respiratory chain enzyme analysis showed a slight decrease in respiratory chain enzyme activity consistent with previous reports. This report supports broadening the phenotype of patients who should be considered for MECP2 mutation analysis to include cases of developmental delay and hypotonia without evidence of an initial period of normal development. Furthermore, it supports the hypothesis of an underlying secondary defect in energy metabolism contributing to the pathogenesis of RTT.

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“…MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), MERRF (myoclonus epilepsy and ragged-red fibres syndrome) and NARP (neuropathy, ataxia and retinitis pigmentosa) are causually linked to a heteroplasmic A to G transition at nucleotide 3243 of the tRNA Leu gene, a heteroplasmic A to G transition at nucleotide 8244 and a T to G transversion at nucleotide 8893 of the ATPase 6 gene, respectively. C to T transition at position 2835 of mitochondrial 16S rRNA gene is involved in the pathogenesis of Rett syndrome (Tang et al, 1997). These facts imply a priori the importance of the study on mtDNA mutagenesis for understanding the development of human disease.…”

Section: Discussionmentioning

confidence: 99%

Novel point mutations in mitochondrial 16S rRNA gene of Chinese hamster cells.

Hashiguchi

Ikushima

2000

Genes Genet. Syst.

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To know the nature and mechanisms of spontaneous mutations in mitochondrial DNA (mtDNA), we determined, by direct cycle sequencing, the nucleotide sequence of the 3' terminal region of the mitochondrial 16S rRNA gene from chloramphenicol-resistant (CAP-R) mutants isolated in Chinese hamster V79 cells. Four different base substitutions were identified in common for the six CAP-R mutants. All mutations were heteroplasmic. One A to G transition was mapped at a site within the putative peptidyl transferase domain, the target region for chloramphenicol, and one G to A transition and two T to G transversions were located within the two different segments which form the stems of the hairpin loop structures attached to this key domain in the predicted secondary structure of 16S rRNA. The mutations detected in this study do not map to the same sites where CAP-R mutations were found previously in mammalian cells. Allele specific-PCR analyses revealed that all four mutations occurred on a single mutant-DNA molecule, but not on several ones independently. Together with the other previous reports, our data suggest that spontaneous mtDNA mutations may not be caused exclusively by oxidative DNA damage at least in 16S rRNA gene.

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Mutational analysis of mitochondrial DNA of children with Rett syndrome

Cited by 29 publications

References 13 publications

Mitochondrial mutation detection using enhanced multiplex denaturing high‐performance liquid chromatography

Mitochondrial mutation detection using enhanced multiplex denaturing high‐performance liquid chromatography

Infantile hypotonia as a presentation of rett syndrome

Novel point mutations in mitochondrial 16S rRNA gene of Chinese hamster cells.

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