scholarly journals Renal involvement by mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome – a case report

Pathology ◽  
2021 ◽  
Vol 53 ◽  
pp. S20
Author(s):  
Vivek Ashoka Menon ◽  
Caroline Fung
Keyword(s):  
Case Report ◽  
Lactic Acidosis ◽  
Renal Involvement ◽  
Melas Syndrome ◽  
Mitochondrial Encephalopathy

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.

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 Psychiatric Care For A Person With MELAS Syndrome: A Case Report

2021 ◽  
Author(s):  
Douglas Yeung Leong ◽  
Rei Yen Chee ◽  
Yit Shiang Lui
Keyword(s):  
Case Report ◽  
Lactic Acidosis ◽  
Multidisciplinary Team ◽  
Psychiatric Care ◽  
Mitochondrial Encephalomyopathy ◽  
Team Approach ◽  
Melas Syndrome ◽  
Team Members ◽  
Multidisciplinary Team Approach

A patient with diagnosed MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) syndrome had developed psychological and behavioural disturbances at a later stage of his illness. Psychiatric care for this patient would not be possible without a multidisciplinary team approach involving multi-prong interventions from the different team members.

Adult-onset of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome Presenting as Acute Meningoencephalitis: A Case Report

2012 ◽  
Vol 43 (3) ◽  
pp. e163-e166 ◽  
Author(s):  
Yu-Chuan Hsu ◽  
Fu-Chi Yang ◽  
Cherng-Lih Perng ◽  
An-Chen Tso ◽  
Lee-Jun C. Wong ◽  
...  
Keyword(s):  
Case Report ◽  
Lactic Acidosis ◽  
Mitochondrial Myopathy ◽  
Adult Onset ◽  
Melas Syndrome

Anesthetic Management of Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome) in a High-Risk Pregnancy

2017 ◽  
Vol 9 (2) ◽  
pp. 38-41 ◽  
Author(s):  
Josh D. Bell ◽  
Kushlin Higgie ◽  
Mital Joshi ◽  
Joshua Rucker ◽  
Sahar Farzi ◽  
...  
Keyword(s):  
High Risk ◽  
Lactic Acidosis ◽  
Anesthetic Management ◽  
High Risk Pregnancy ◽  
Melas Syndrome ◽  
Mitochondrial Encephalopathy ◽  
Risk Pregnancy

scholarly journals Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome

2021 ◽  
Author(s):  
Sanjiban Chakrabarty ◽  
Periyasamy Govindaraj ◽  
Bindu Parayil Sankaran ◽  
Madhu Nagappa ◽  
Shama Prasada Kabekkodu ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Exome Sequencing ◽  
Mitochondrial Gene ◽  
Pathogenic Mutation ◽  
Neurological Deficits ◽  
Melas Syndrome ◽  
Electron Microscopic ◽  
Inherited Disorders ◽  
Mitochondrial Encephalopathy ◽  
Mtdna Sequence

Abstract Background Mitochondrial disorders are clinically complex and have highly variable phenotypes among all inherited disorders. Mutations in mitochon drial DNA (mtDNA) and nuclear genome or both have been reported in mitochondrial diseases suggesting common pathophysiological pathways. Considering the clinical heterogeneity of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) phenotype including focal neurological deficits, it is important to look beyond mitochondrial gene mutation. Methods The clinical, histopathological, biochemical analysis for OXPHOS enzyme activity, and electron microscopic, and neuroimaging analysis was performed to diagnose 11 patients with MELAS syndrome with a multisystem presentation. In addition, whole exome sequencing (WES) and whole mitochondrial genome sequencing were performed to identify nuclear and mitochondrial mutations. Results Analysis of whole mtDNA sequence identified classical pathogenic mutation m.3243A > G in seven out of 11 patients. Exome sequencing identified pathogenic mutation in several nuclear genes associated with mitochondrial encephalopathy, sensorineural hearing loss, diabetes, epilepsy, seizure and cardiomyopathy (POLG, DGUOK, SUCLG2, TRNT1, LOXHD1, KCNQ1, KCNQ2, NEUROD1, MYH7) that may contribute to classical mitochondrial disease phenotype alone or in combination with m.3243A > G mutation. Conclusion Individuals with MELAS exhibit clinical phenotypes with varying degree of severity affecting multiple systems including auditory, visual, cardiovascular, endocrine, and nervous system. This is the first report to show that nuclear genetic factors influence the clinical outcomes/manifestations of MELAS subjects alone or in combination with m.3243A > G mutation.

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