Hypervariable region structure and polymorphism of mtDNA from dental pulp and a family analysis

Tsutsumi, Hirofumi; Komuro, Toshinobu; Mukoyama, Rei; Nogami, Hiroaki

doi:10.2334/josnusd.48.145

Cited by 10 publications

(12 citation statements)

References 21 publications

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“…Darah merupakan spesimen identifikasi forensik yang sering digunakan dan merupakan gold standard akan tetapi ketika terjadi suatu peristiwa yang menyebabkan tubuh seseorang hancur, maka diperlukan spesimen lain yang digunakan sebagai sampel yaitu gigi. 2 Apabila kecelakaan terjadi di mana anggota tubuh yang lain telah hancur atau rusak akan tetapi kondisi gigi masih relatif baik maka akan didapatkan DNA mitokondria pulpa gigi. 3 Menurut Tsutsumi 2 hal tersebut disebabkan dentin dan enamel memberikan semacam perlindungan bagi DNA gigi.…”

Section: Kata Kunci: Identifikasi Personal Mtdna Pulpa Gigi Heterounclassified

“…6 Variasi nukleotida (transisi, transversi dan insersi) lebih banyak muncul pada HVR 1 yaitu sebanyak 77 posisi (24,8%) daripada HVR 2 sebanyak 56 posisi (19,9%). 2 Heteroplasmy adalah suatu keadaan di mana terdapat dua atau lebih tipe mtDNA dalam mitokondrion tunggal, pada sel atau individu. 7 Heteroplasmy yang terjadi pada DNA mitokondria terjadi karena mitokondria berhubungan erat dengan sistem transportasi elektron sehingga hal ini menyebabkan DNA mitokondria rentan terjadi mutasi.…”

Section: Kata Kunci: Identifikasi Personal Mtdna Pulpa Gigi Heterounclassified

“…Gigi premolar yang sehat diambil jaringan pulpanya dengan cara mencari orifice pulpa menggunakan mikromotor lowspeed, kemudian pulpa diambil menggunakan jarum ekstirpasi dan pulpa yang didapat dimasukkan ke dalam tabung eppendorf dan disonikasi selama 15 menit. 2 Pengambilan darah sampel sebanyak 5 ml dari vena cubiti dilakukan sebagai kontrol.…”

Section: Bahan Dan Metodeunclassified

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Analisis heteroplasmy DNA mitokondria pulpa gigi pada identifikasi personal forensik (Heteroplasmy analysis of dental pulp mitochondrial DNA in forensic personal identification)

Rahayu

Sosiawan

2013

Dent. J. (Majalah Kedokteran Gigi)

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Section: Kata Kunci: Identifikasi Personal Mtdna Pulpa Gigi Heterounclassified

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Analisis heteroplasmy DNA mitokondria pulpa gigi pada identifikasi personal forensik (Heteroplasmy analysis of dental pulp mitochondrial DNA in forensic personal identification)

Rahayu

Sosiawan

2013

Dent. J. (Majalah Kedokteran Gigi)

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“…Esse tipo de polimorfismo (AC) foi descrito em diferentes populações com frequências variando entre 0,8% a 5,3% (Brandstätter et al, 2004;Lutz et al, 2000a;Saunier et al, 2009), estando presente em maior frequência na população da República Tcheca e da Coréia (Chung et al, 2005;Vanecek et al, 2004 ACs (Chung et al, 2005). (Lutz et al, 2000a;Tsutsumi et al, 2006, Vanecek et al, 2004 Essa heteroplasmia foi descrita previamente em diversos estudos, estando presente em uma frequência que varia de 2,3% a 7,1%, com inserções variando de 1 até 7 Cs na região avaliada (Brandstätter et al, 2004;Irwin et al, 2009;Lutz et al, 2000a;Saunier et al, 2009;Tsutsumi et al, 2006). As populações com maiores frequências de inserções de Cs foram às populações japonesa e coreana Tsutsumi et al, 2006).…”

Section: Autossômicaunclassified

“…(Lutz et al, 2000a;Tsutsumi et al, 2006, Vanecek et al, 2004 Essa heteroplasmia foi descrita previamente em diversos estudos, estando presente em uma frequência que varia de 2,3% a 7,1%, com inserções variando de 1 até 7 Cs na região avaliada (Brandstätter et al, 2004;Irwin et al, 2009;Lutz et al, 2000a;Saunier et al, 2009;Tsutsumi et al, 2006). As populações com maiores frequências de inserções de Cs foram às populações japonesa e coreana Tsutsumi et al, 2006). .…”

Section: Autossômicaunclassified

Avaliação da relação entre haplogrupo mitocondrial e ancestralidade genômica no desenvolvimento de insuficiência cardíaca em amostra brasileira

Cardena¹

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Mitochondria provide an environment conducive to mutations in DNA molecules (mtDNA). Analyses of mtDNA have shown mutations potentially leading to many cardiovascular traits. Here, we describe a patient with dilated cardiomyopathy and new mtDNA duplication. The patient presented symptoms of heart failure New York Heart Association functional class III and was diagnosed with non-familial dilated cardiomyopathy with important left ventricular systolic dysfunction. Sequencing of mtDNA control region was done, and a 15 bp duplication was observed between nucleotides 16,018 and 16,032. Part of this duplication is localized within the tRNA proline gene (tRNA Pro) that has an important role in cell protection against oxidative stress and is considered an important regulatory factor for cellular reactive oxygen species balance. This duplication could alter the stability or secondary structure of tRNA Pro , affecting mt-protein synthesis. In turn, the presence of duplication in tRNA Pro could cause some oxidative stress imbalance and, so, mitochondrial dysfunction could result in the pathogenicity.

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Mutations in the D-loop region and increased copy number of mitochondrial DNA in human laryngeal squamous cell carcinoma

Wei

Yang

et al. 2012

Mol Biol Rep

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The effects of D-loop mutations and the mtDNA copy number alterations in LSCC are poorly understood. Herein, we investigated the features and roles of somatic mutations of the D-loop region and copy number alterations in mtDNA of LSCC. Using direct sequencing and real-time quantitative PCR, we examined D-loop mutations and mtDNA copy number in LSCC tissues, paracancerous normal tissues and peripheral vein blood samples from 40 LSCC patients. A student's t test, ANOVA test and χ(2) test were used to analyze association among mutations, mtDNA copy number alterations with clinicopathologic parameters. The results revealed that 21 tumors (52.5 %) had somatic mtDNA D-loop mutations with a total of 34 mutations. Among them, 28 (82.4 %) and 6 (17.6 %) were located in HVII and HVI, respectively. D-loop mutations correlated with tumor differentiation and p53 mutation (P < 0.05), and increased mtDNA copy number. In addition, mtDNA copy number in tumor tissues and paracancerous normal tissues were all significantly higher than in peripheral blood (P < 0.05). The copy number of mtDNA in the cases which carried D-loop mutation was significantly higher than that of the negative cases (P < 0.05). These results suggest that the mtDNA D-loop in LSCC is an unstable region with a high frequency of somatic mutation and polymorphisms. Together with the increase in mtDNA copy number, these factors may play a role in carcinogenesis of the larynx.

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Hypervariable region structure and polymorphism of mtDNA from dental pulp and a family analysis

Cited by 10 publications

References 21 publications

Analisis heteroplasmy DNA mitokondria pulpa gigi pada identifikasi personal forensik (Heteroplasmy analysis of dental pulp mitochondrial DNA in forensic personal identification)

Analisis heteroplasmy DNA mitokondria pulpa gigi pada identifikasi personal forensik (Heteroplasmy analysis of dental pulp mitochondrial DNA in forensic personal identification)

Avaliação da relação entre haplogrupo mitocondrial e ancestralidade genômica no desenvolvimento de insuficiência cardíaca em amostra brasileira

Mutations in the D-loop region and increased copy number of mitochondrial DNA in human laryngeal squamous cell carcinoma

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