The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome

Fabrizi, G M; Cardaioli, E; Grieco, G S; Cavallaro, T; Malandrini, A; Manneschi, L; Dotti, M T; Federico, A; Guazzi, G
July 1996
Journal of Neurology, Neurosurgery & Psychiatry;Jul1996, Vol. 61 Issue 1, p47
Academic Journal
journal article
No abstract available.


Related Articles

  • Detecting of Mitochondrial tRNALeu(UUR) Mutations at Position A3243G in Patients with Type 2 Diabetes Mellitus in Yunnan. SHI Rou; LEI You-ming; SONG Dian - ping; PU Ling; HAN Rui // Journal of Kunming Medical University / Kunming Yike Daxue Xueba;2014, Vol. 35 Issue 3, p44 

    Objective To investigate the prevalence of the mitochondrial tRNALeu(UUR) mutations at position 3243A/G in patients with type 2 diabetes mellitus in Yunnan Province. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing were used to...

  • Atrial fibrillation is poorly tolerated by patients with hypertrophic concentric cardiomyopathy caused by mitochondrial tRNALeu (UUR) mutations. Heliö, Tiina M.; Götz, Alexandra; Rapola, Janne; Kiuru-Enari, Sari; Kivistö, Sari; Heikinheimo, Terttu; Suomalainen, Anu // Cardiogenetics;2013, Vol. 3 Issue 1, p31 

    Knowledge on the molecular background of mitochondrial disorders has accumulated during the past two decades, but clinical and molecular features of mitochondrial cardiomyopathies (CMPs) are only starting to be characterized. We studied the detailed cardiologic phenotype of patients with...

  • Multilevel functional and structural defects induced by two pathogenic mitochondrial tRNA mutations. Meng WANG; Xiao-Long ZHOU; Ru-Juan LIU; Zhi-Peng FANG; Mi ZHOU; Gilbert ERIANI; En-Duo WANG // Biochemical Journal;8/1/2013, Vol. 453 Issue 3, p455 

    Point mutations in hmtRNAs (human mitochondrial tRNAs) can cause various disorders, such as CPEO (chronic progressive external ophthalmoplegia) and MM (mitochondrial myopathy). Mitochondrial tRNALeu, especially the UUR codon isoacceptor, is recognized as a hot spot for pathogenic mtDNA point...

  • MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach. Seitun, Sara; Massobrio, Laura; Rubegni, Anna; Nesti, Claudia; Castiglione Morelli, Margherita; Boccalini, Sara; Galletto Pregliasco, Athena; Budaj, Irilda; Deferrari, Luca; Rosa, Gian Marco; Montecucco, Fabrizio; Valbusa, Alberto // Case Reports in Cardiology;11/7/2016, p1 

    A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position 3243 (m.3243A>G) in tRNALeu(UUR) gene....

  • Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene. MKAOUAR-REBAI, Emna; FENDRI-KRIAA, Nourhene; LOUHICHI, Nacim; TLILI, Abdelaziz; TRIKI, Chahnez; GHORBEL, Abdelmoneem; MASMOUDI, Saber; FAKHFAKH, Faiza // Bioscience Reports;Dec2010, Vol. 30 Issue 6, p405 

    Sensorineural hearing loss has been described in association with different mitochondrial multisystemic syndromes, often characterized by an important neuromuscular involvement. Until now, mutations in mitochondrial DNA, especially in the 12S rRNA, the tRNASer(UCN) and the tRNALeu(UUR) genes,...

  • Dimerization of a pathogenic human mitochondrial tRNA. Wittenhagen, Lisa M.; Kelley, Shana O. // Nature Structural Biology;Aug2002, Vol. 9 Issue 8, p586 

    Mutations of human mitochondrial transfer RNA (tRNA) are implicated in a variety of multisystemic diseases. The most prevalent pathogenic mitochondrial mutation is the A3243G substitution within the gene for tRNALeu(UUR). Here we describe the pronounced structural change promoted by this...

  • Evidence that the Mitochondrial Leucyl tRNA Synthetase (LARS2) Gene Represents a Novel Type 2 Diabetes Susceptibility Gene. 't Hart, Leen M.; Hansen, Torben; Rietveld, Ingrid; Dekker, Jacqueline M.; Nijpels, Giel; Janssen, George M. C.; Arp, Pascal A.; Uitterlinden, André G.; Jørgensen, Torben; Borch-Johnsen, Knut; Pols, Huibert A. P.; Pedersen, Oluf; van Duijn, Cornelia M.; Heine, Robert J.; Maassen, J. Antonie // Diabetes;Jun2005, Vol. 54 Issue 6, p1892 

    Previously, we have shown that a mutation in the mitochondrial DNA-encoded tRNALeu(UUR) gene is associated with type 2 diabetes. One of the consequences of this mutation is a reduced aminoacylation of tRNALeu(UUR). In this study, we have examined whether variants in the leucyl tRNA synthetase...

  • Making of the A3243g Mutant Template Through Site Directed Mutagenesis as Positive Control in PASA-Mismatch Three Bases. Iman P. Maksum; Athiyah Farhani; Saadah D. Rachman; Yohanis Ngili // International Journal of PharmTech Research;Apr-Jun2013, Vol. 5 Issue 2, p441 

    Nucleotide mutation at position 3243 that changes adenine to guanine nucleotide (A3243G) on tRNALeu(UUR) gene in mtDNA is the most discovered mutation and is expressed in phenotype MIDD (Maternally Inherited Diabetes and Deafness) and MELAS (Mitochondrial myopathy, Encephalopathy, Lactic...

  • Isolated cytochrome c oxidase deficiency as a cause of MELAS. Rossmanith, W.; Freilinger, M.; Roka, J.; Raffelsberger, T.; Moser-Thier, K.; Prayer, D.; Bernert, G.; Bittner, R.E. // Journal of Medical Genetics;Feb2008, Vol. 45 Issue 2, p117 

    Background: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is one of the more common mitochondrial encephalomyopathies. About 80% of MELAS cases are caused by transition 3243A→G in the mitochondrial tRNALeu(UUR) gene (MT-TL1). Other mutations in...

  • Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNALeu mutation. van Eijsden, R. G. E.; Eijssen, L. M. T.; Lindsey, P. J.; van den Burg, C. M. M.; de Wit, L. E. A.; Rubio-Gozalbo, M. E.; de Die, C. E. M.; Ayoubi, T.; Sluiter, W.; de Coo, I. F. M.; Smeets, H. J. M. // Journal of Medical Genetics;Aug2008, Vol. 45 Issue 8, p525 

    Background: The m.3243A>G mutation in the mitochondrial tRNALeu(UUR) gene is an example of a mutation causing a very heterogeneous phenotype. It is the most frequent cause (80%) of the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), but it can...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics