scholarly journals Detection of a new case harboring mitochondrial A3243G mutation of MELAS syndrome

2017 ◽  
Vol 33 (1S) ◽  
Author(s):  
Phung Bao Khanh ◽  
Nguyen Minh Hoang ◽  
Pham Van Anh ◽  
Le Ngoc Anh ◽  
Cao Vu Hung ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
Lactic Acidosis ◽  
Real Time ◽  
Mutation Analysis ◽  
Real Time Pcr ◽  
Melas Syndrome ◽  
Mitochondrial Encephalopathy ◽  
Pcr Rflp ◽  
A3243g Mutation ◽  
Severity Of The Disease

Mitochondrial genome A3243G mutation in the tRNALeu(UUR)  encodinggene (MTTL)is the main cause of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS). This mutation exists in heteroplasmic form and severity of the disease is affected by many factors including heteroplasmy level. In this study, a pediatric proband (female, 8 years old) was found to carry A3243G mutation at 77.6% of heteroplasmy by using PCR-RFLP in combination with real-time PCR. The results of  the A3243G mutation analysis of the proband’s family showed that her mother without any symptoms of encephalopathyalso carried the mutation at 7.9% of heteroplasmy whereas the mutation was not found in the proband’s healthy father and healthy sister, indicating that the proband received the A3243G mutation from her mother and the expression of MELAS syndromes depended on the level of heteroplasmy.

scholarly journals Development of Real-time PCR Kit for Detection and Quantitation of Six Common Mutations A3243G, G3380A, A8344G, T8993G, T8993C, G11778A of Human Mitochondrial Genome

2022 ◽  
Author(s):  
Nguyen Thi Hong Loan ◽  
Phung Bao Khanh ◽  
Le Ngoc Anh ◽  
Cao Vu Hung ◽  
Pham Van Anh ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
Real Time ◽  
Real Time Pcr ◽  
Mitochondrial Diseases ◽  
Thermal Conditions ◽  
Locked Nucleic Acid ◽  
Specific Primers ◽  
A3243g Mutation ◽  
Selection Of ◽  
Human Mitochondrial Genome

A procedure for production of a real-time PCR kit for detection and quantitation of 6 common mitochondrial genome mutations including A3243G, G3380A, A8344G, T8993G, T8993C, G11778A using fluorescent locked nucleic acid (LNA) Taqman probes was reported. The procedure consists of designing of specific primers and LNA probes, selection of master mixture components and real-time PCR thermal conditions. The produced kit had specificity of 100% and sensitivity ≥ 1% and remained fully active after 7 days of storage at 25 oC or 20 days at 4 oC or 6 months at -20 oC. The kit was used to analyze A3243G, G3380A, A8344G, T8993G, T8993C, G11778A mutations from 69 patients tentatively diagnosed with mitochondrial diseases and 3 cases of A3243G carriers (4.34%) was found. In these cases, the A3243G mutation was heteroplasmic, maternally inherited, and the heteroplasmy level was shown to be related to the symptome expression.tome expression.

scholarly journals Atypical Strokes in a Young African American Male: A Case of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-2
Author(s):  
Jully M. Sanchez ◽  
Judy Ann Tan ◽  
Dimitrios Farmakiotis ◽  
Vikas Aggarwal
Keyword(s):  
African American ◽  
Lactic Acidosis ◽  
Mitochondrial Myopathy ◽  
African American Male ◽  
Young Male ◽  
Melas Syndrome ◽  
Clinical Context ◽  
Mitochondrial Encephalopathy

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare but important cause of stroke-like symptoms which can often be missed Thambisetty and Newman 2004. We describe a case of a young male presenting with stroke-like episodes, later diagnosed with MELAS in an attempt to improve the understanding about diagnosing MELAS in the appropriate clinical context.

BRAF V600E Mutation Analysis in Papillary Thyroid Carcinomas by Peptide Nucleic Acid Clamp Real-time PCR

2012 ◽  
Vol 20 (3) ◽  
pp. 759-766 ◽  
Author(s):  
Dongjun Jeong ◽  
Yujun Jeong ◽  
Ji Hye Park ◽  
Sun Wook Han ◽  
Sung Yong Kim ◽  
...  
Keyword(s):  
Nucleic Acid ◽  
Real Time ◽  
Mutation Analysis ◽  
Real Time Pcr ◽  
Peptide Nucleic Acid ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Papillary Thyroid ◽  
Thyroid Carcinomas

scholarly journals LORD-Q: a long-run real-time PCR-based DNA-damage quantification method for nuclear and mitochondrial genome analysis

2013 ◽  
Vol 42 (6) ◽  
pp. e41-e41 ◽  
Author(s):  
Simon Lehle ◽  
Dominic G. Hildebrand ◽  
Britta Merz ◽  
Peter N. Malak ◽  
Michael S. Becker ◽  
...  
Keyword(s):  
Dna Damage ◽  
Mitochondrial Genome ◽  
Real Time ◽  
Genome Analysis ◽  
Real Time Pcr ◽  
Quantification Method ◽  
Damage Quantification ◽  
Long Run

scholarly journals Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Life ◽  
2021 ◽  
Vol 11 (11) ◽  
pp. 1111
Author(s):  
Hueng-Chuen Fan ◽  
Hsiu-Fen Lee ◽  
Chen-Tang Yue ◽  
Ching-Shiang Chi
Keyword(s):  
Lactic Acidosis ◽  
Mitochondrial Disorder ◽  
Chain Complex ◽  
Mitochondrial Encephalomyopathy ◽  
Common Mutation ◽  
Melas Syndrome ◽  
Mitochondrial Translation ◽  
Gene Encoding ◽  
Clinical Complexity ◽  
A3243g Mutation

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS)syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic, biochemical and clinical complexity. The most common mutation associated with MELAS syndrome is the mtDNA A3243G mutation in the MT-TL1 gene encoding the mitochondrial tRNA-leu(UUR), which results in impaired mitochondrial translation and protein synthesis involving the mitochondrial electron transport chain complex subunits, leading to impaired mitochondrial energy production. Angiopathy, either alone or in combination with nitric oxide (NO) deficiency, further contributes to multi-organ involvement in MELAS syndrome. Management for MELAS syndrome is amostly symptomatic multidisciplinary approach. In this article, we review the clinical presentations, pathogenic mechanisms and options for management of MELAS syndrome.

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