Top Abstract Purchase Related
Home
>
Node
>
Subnode

Mitochondrial gene mutation

Shin, W.S.; Toyo-oka, T.

Nihon Rinsho. Japanese Journal of Clinical Medicine 58(1): 129-133

2000

ISSN/ISBN: 0047-1852
PMID: 10885300
Document Number: 514461
Mitochondrial DNA(mtDNA) anomaly was emerging as a cause of idiopathic cardiomyopathy in addition to sarcomeric gene mutation. Meanwhile, several point mutations and deletions in mtDNA initially recognized as major causes of mitochondrial encephalomyopathies are now clarified to share 1% cause of diabetes mellitus. These results indicate that mtDNA mutations will be a significant candidate for cardiomyopathies. Screening of cardiomyopathic patients with mtDNA point mutations revealed that there were at least several % of mtDNA anomaly (MELAS type) among them. They also showed specific findings in ultrastructures of the cardiac muscle.

Document emailed within 1 workday
Secure & encrypted payments

Xiu, L.; Zhang, Q.; Yu, B. 1997: Clinical characterizations of familial diabetes mellitus associated with mitochondrial gene mutation Zhonghua Yi Xue Za Zhi 77(6): 418-421
Kalinin, V.N.; Schmidt, W.; Poller, W.; Olek, K. 1995: A new point mutation in the mitochondrial gene ND1, detected in a patient with type Ii diabetes Genetika 31(8): 1180-1182
Ionasescu, V.V.; Hart, M.; DiMauro, S.; Moraes, C.T. 1994: Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNA(Pro) gene Neurology 44(5): 975-977
Lertrit, P.; Ruangvaravate, N.; Trongpanich, Y.; Imsumran, A.; Mungkornkarn, C.; Neungton, N. 1999: Leber's hereditary optic neuropathy (LHON) with mitochondrial ND4 gene mutation (11778) in a Thai patient Journal of the Medical Association of Thailand 82(1): 59-64
Wang, R.; Yang, Z.; Zhu, J.-m.; Wang, J.-l.; Yang, H.-x.; Wang, Q.; Zhai, G.-r.; Li, Z.; Yu, M. 2006: Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant Zhonghua Fu Chan Ke Za Zhi 41(10): 672-675
Keller, D.I.; Barrane, F-Zahara.; Gouas, L.; Martin, J.; Pilote, S.; Suarez, V.; Osswald, S.; Brink, M.; Guicheney, P.; Schwick, N.; Chahine, M. 2005: A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state Canadian Journal of Cardiology 21(11): 925-931
Song, D.; Zhang, Y.; Shi, J. 2001: The study of point mutation of muscular mitochondrial DNA from patients with mitochondrial encephalomyopathies Zhonghua Yi Xue Za Zhi 81(11): 659-661
Stratilová, L.; Zeman, J.; Hansíková, H.; Houstĕk, J.; Hermanská, J.; Dudková, Z.; Konrádová, V.; Hůlková, H.; Elleder, M. 1998: Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA Casopis Lekaru Ceskych 137(14): 430-433
Devin, A.B.; Koltovaia, N.A.; Gavrilov, B.V.; Arman, I.P. 1994: Isolation and characterization of new nuclear srm gene mutation causing coordinated changes in the maintenance of nuclear and mitochondrial genetic structures in the yeast Saccharomyces Genetika 30(9): 1194-1201
Wang, Z.-x.; Luan, X.-h.; Zhang, Y.; Yang, Y.-l.; Qi, Y.; Bu, D.-f.; Yuan, Y. 2008: Mitochondrial DNA mutation analysis in 97 Chinese patients with mitochondrial cephalomyopathy Zhonghua Yi Xue Za Zhi 88(46): 3254-3256
Inamori, M.; Ishigami, T.; Takahashi, N.; Hibi, K.; Ashino, K.; Sumita, S.; Tamura, K.; Ochiai, H.; Umemura, S.; Ishii, M.; Tanaka, S.; Sekihara, H.; Inayama, Y. 1997: A case of mitochondrial cardiomyopathy with heart failure, sick sinus syndrome and diabetes mellitus: mitochondrial DNA adenine-to-guanine transition at 3243 of mitochondrial tRNA(LEU)(UUR) gene Journal of Cardiology 30(6): 341-347
Zilfalil, B.A.; Sarina, S.; Liza-Sharmini, A.T.; Oldfield, N.J.; Stenhouse, S.A. 2006: Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays Singapore Medical Journal 47(2): 129-133
Kawamura, J.; Kato, S.; Ishihara, T.; Hiraishi, Y.; Kawashiro, T. 1997: Difference of new mutation rates in dystrophin gene between deletion and duplication mutation in Duchenne and Becker muscular dystrophy Rinsho Shinkeigaku 37(3): 212-217
Kanoe, H.; Nakayama, T.; Murakami, H.; Hosaka, T.; Yamamoto, H.; Nakashima, Y.; Tsuboyama, T.; Nakamura, T.; Sasaki, M.S.; Toguchida, J. 1998: Amplification of the CDK4 gene in sarcomas: tumor specificity and relationship with the RB gene mutation Anticancer Research 18(4a): 2317-2321
Ye, Y.; Wu, J.; Luo, H.-b.; Wang, Z.; Li, Y.-b. 2008: Multiple amplification of 16S rRNA gene and Cytb gene in mitochondrial DNA for species identification Fa Yi Xue Za Zhi 24(4): 259-261
Hirai, M.; Suzuki, S. 1998: Diabetes mellitus with mitochondrial DNA tRNA(Leu)(UUR) mutation at 3256(C-T) Nihon Rinsho. Japanese Journal of Clinical Medicine 56(Suppl 3): 530-533
Bouhaha, R.; Abid Kamoun, H.; Elgaaied, A.; Ennafaa, H. 2010: A3243G mitochondrial DNA mutation in Tunisian diabetic population La Tunisie Medicale 88(9): 642-645
Playán, A.; Solano-Palacios, A.; González de la Rosa, J.B.; Merino-Arribas, J.M.; Andreu, A.L.; López-Pérez, M.; Montoya, J. 2002: Leigh syndrome resulting from a de novo mitochondrial DNA mutation (T8993G) Revista de Neurologia 34(12): 1124-1126
Yu, G.S.; Otabe, S.; Niwa, M. 1996: A sensitive fluorescent assay for the detection and quantification of mitochondrial 3243 mutation Rinsho Byori. Japanese Journal of Clinical Pathology 44(8): 778-782
Yoneda, M.; Tanno, Y.; Horai, S.; Ozawa, T.; Miyatake, T.; Tsuji, S. 1990: A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers Biochemistry International 21(5): 789-796