Pathophysiological and clinical consequences of the mitochondrial DNA 3243A→G mutation

Pathophysiological and clinical consequences of the mitochondrial DNA 3243A→G mutation

Abstract This study describes clinical and biochemical consequences of the 3243A→G mutation in the tRNALeu(UUR) gene of the mitochondrial DNA. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) is usually caused by this mutation. Demyelinating polyneuropat...

Full description

Bibliographic Details
Main Author:	Rusanen, H. (Harri)
Format:	Doctoral Thesis
Language:	English
Published:	University of Oulu 2000
Subjects:	MELAS syndrome mitochondrial disorders pathophysiology phenotype
Online Access:	http://urn.fi/urn:isbn:9514255380 http://nbn-resolving.de/urn:isbn:9514255380

Similar Items

Cardiovascular abnormalities in adult patients with the 3243A>G mutation in mitochondrial DNA
by: Majamaa-Voltti, K. (Kirsi)
Published: (2007)

Myopathy and peripheral neuropathy associated with the 3243A>G mutation in mitochondrial DNA
by: Kärppä, M. (Mikko)
Published: (2004)

Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA
by: Chi-Hung Liu, et al.
Published: (2012-09-01)

Assessment of the phenotype genotype variability and correlation in m.3243A>G mutation carriers requires prospective studies
by: Josef Finsterer, et al.
Published: (2016-09-01)

The m.3243A > G mutation load in hair follicles from different scalp regions of patients with MELAS
by: Yuan-yuan LU, et al.
Published: (2018-08-01)

Paradoxical effect of sodium valproate that aggravates epilepsy of MELAS in a patient with A3243G mutation of the mitochondrial DNA
by: Chen Yi-Min, et al.
Published: (2007-03-01)

Quantification of gait in mitochondrial m.3243A > G patients: a validation study
by: Rob Ramakers, et al.
Published: (2017-05-01)

MELAS and Kearns–Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions
by: Nian Yu, et al.
Published: (2016-09-01)

Onset of MELAS due to the m.3243A>G mutation is early if the large phenotypic variability is considered
by: Josef Finsterer, et al.
Published: (2017-03-01)

Pioglitazone and Deoxyribonucleoside Combination Treatment Increases Mitochondrial Respiratory Capacity in m.3243A>G MELAS Cybrid Cells
by: Harrison J. Burgin, et al.
Published: (2020-03-01)

A Mitochondrial Disorder in a Middle Age Iranian Patient: Report of a Rare Case
by: Mostafa Almasi, et al.
Published: (2017-07-01)

Heteroplasmy and Copy Number in the Common m.3243A>G Mutation—A Post-Mortem Genotype–Phenotype Analysis
by: Leila Motlagh Scholle, et al.
Published: (2020-02-01)

Clinical features of the late ⁃ onset mitochondrial encephalomyopathy with lactic acidosis and stroke⁃like episodes
by: Dan⁃hua ZHAO, et al.
Published: (2020-03-01)

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
by: John P Grady, et al.
Published: (2018-06-01)

The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene
by: E. Keilland, et al.
Published: (2016-03-01)

Neuroimaging pattern and pathophysiology of cerebellar stroke-like lesions in MELAS with m.3243A>G mutation: a case report
by: Munenori Oyama, et al.
Published: (2020-05-01)

Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients
by: Mariana Amina Loos, et al.
Published: (2021-06-01)

Response to: Letter to the Editor regarding: The expanding phenotype of MELAS caused by the m.3291T>C tRNA mutation E. Kelland, C.A. Rupar, Asuri N. Prasad, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2]
Published: (2016-06-01)

Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia
by: Jorge Luis Granadillo De Luque, et al.
Published: (2016-01-01)

MELAS syndrome as a unusual cause of hypoparathyroidism: clinical case
by: Diliara Sh. Umiarova, et al.
Published: (2019-04-01)

Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders
by: Yu-Xing Ge, et al.
Published: (2017-03-01)

Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease
by: Dar-Shong Lin, et al.
Published: (2019-01-01)

Mitochondrial Syndromes Revisited
by: Daniele Orsucci, et al.
Published: (2021-03-01)

Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation
by: Ha Neul Lee, et al.
Published: (2018-07-01)

Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
by: Hyunjoo Lee, et al.
Published: (2021-07-01)

MELAS syndrome mimicking somatoform disorder
by: Inczedy-Farkas Gabriella, et al.
Published: (2011-12-01)

Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA
by: Chang-Yu Xia, et al.
Published: (2016-01-01)

Caracterização clínica, laboratorial e de neuroimagem de pacientes com doença mitocondrial associada à mutação m.3243A>G
by: Rocha, Margleice Marinho Vieira
Published: (2016)

Caracterização clínica, laboratorial e de neuroimagem de pacientes com doença mitocondrial associada à mutação m.3243A>G
by: Margleice Marinho Vieira Rocha
Published: (2016)

Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G
by: Daniela Alves, et al.
Published: (2017-08-01)

Molecular Machinery and Pathophysiology of Mitochondrial Dynamics
by: Yi-Han Chiu, et al.
Published: (2021-09-01)

Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge
by: Domenico Santoro, et al.
Published: (2019-03-01)

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
by: Tao-Ran Li, et al.
Published: (2019-04-01)

Heterogeneidade Clínica de 6 Casos com a Mutação «MELAS» A3243G do DNA Mitocondrial
by: Laura Vilarinho, et al.
Published: (2014-09-01)

Addendum: A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
by: Tao-Ran Li, et al.
Published: (2019-09-01)

Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes
by: Xiao-ling YAN, et al.
Published: (2018-11-01)

Sensitive quantification of mitochondrial mutation using new Taqman probes
by: Truong Hue, et al.
Published: (2014-12-01)

MELAS: clinical features, muscle biopsy and molecular genetics MELAS: manifestações clínicas, biópsia muscular e estudo molecular
by: Paulo José Lorenzoni, et al.
Published: (2009-09-01)

The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes
by: Mouna Tabebi, et al.
Published: (2020-07-01)

Analysis of mtDNA A3243G mutation frequency in Hungary
by: Gal Aniko, et al.
Published: (2010-06-01)

Cannot write session to /tmp/vufind_sessions/sess_h7535sunfh7v0j3cevkb8cmcps