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Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report
ConclusionsGrowth differentiation factor-15 can be used not only for the diagnosis of mitochondrial disease, but as an indicator of its acute exacerbation. A stroke-like episode of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes reflects a drastic derangement of multiple amino acids. The involvement of aspartic acid in the episodes should be explored in future studies.
Source: Journal of Medical Case Reports - October 20, 2019 Category: General Medicine Source Type: research

Neuromuscular and Muscle Metabolic Functions in MELAS Before and After Resistance Training: A Case Study
Conclusion To conclude, this study suggests a preserved plasticity in the skeletal muscle of a patient with MELAS. More importantly, Resistance Training appears to be a safe and effective method to increase skeletal muscle function in this patient population, and this effect is mediated by both neuromuscular and mitochondrial adaptations. However, particular attention and caution is needed in the interpretation of the data of this single case study and further studies are warranted including larger sample of patients. Ethics Statement For this case study the participant caregiver provided written informed consent. Auth...
Source: Frontiers in Physiology - April 25, 2019 Category: Physiology Source Type: research

Kidney involvement in MELAS syndrome: Description of 2 cases.
CONCLUSION: The presence of FSGS or other kidney involvement accompanied by hereditary neurosensory deafness and T2DM could be suggestive of a A3243G tRNA(Leu) mutation and should prompt a genetic testing and an evaluation of potential extrarenal involvement. PMID: 28283275 [PubMed - as supplied by publisher]
Source: Medicina Clinica - March 12, 2017 Category: Journals (General) Tags: Med Clin (Barc) Source Type: research

Successful Glycemic Control Decreases the Elevated Serum FGF21 Level without Affecting Normal Serum GDF15 Levels in a Patient with Mitochondrial Diabetes.
Abstract Mitochondrial diabetes mellitus is a subtype of diabetes linked to mutations in mitochondrial DNA. In patients with mitochondrial diabetes mellitus, the effect of glycemic control on the serum concentrations of fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15) has not been evaluated. FGF21 and GDF15 have been reported to be useful biomarkers for the diagnosis and severity assessment of mitochondrial diseases like mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Recent studies have shown FGF21 acts in an endocrine fashion to regulate ...
Source: The Tohoku Journal of Experimental Medicine - May 25, 2016 Category: Research Authors: Murakami T, Ueba Y, Shinoto Y, Koga Y, Kaneda D, Hatoko T, Kato T, Yonemitsu S, Muro S, Oki S Tags: Tohoku J Exp Med Source Type: research

Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes.
Abstract Approximately 80% of patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) carry the A3243G mutation in the mitochondrial tRNALeu (UUR) gene. Conversely, this mutation has also been identified as one of the most prevalent genetic abnormalities in patients with diabetes mellitus. Mitochondrial diabetes mellitus complicated with MELAS is relatively common, and 12.5% of patients with the A3243G mutation develop MELAS after being diagnosed with diabetes mellitus. However, the clinical impact of diabetes mellitus in MELAS patients remains unclear. Therefore, we...
Source: The Tohoku Journal of Experimental Medicine - April 13, 2016 Category: Research Authors: Murakami T, Shinoto Y, Yonemitsu S, Muro S, Oki S, Koga Y, Goto Y, Kaneda D Tags: Tohoku J Exp Med Source Type: research

Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry
Conclusion: Primary mitochondrial disorders are a rare cause of juvenile diabetes and likely to be underdiagnosed. As there is clinical overlap with T1D and T2D, dyslipidemia and low body weight may help to identify further DMO cases. What is Known: • In adults diabetes of mitochondrial origin (DMO) is a rare cause of non-autoimmune diabetes, affecting about 0.8 % of diabetes cases. • Common features are a maternal family history of diabetes, hearing loss and neurological abnorma...
Source: European Journal of Pediatrics - December 15, 2015 Category: Pediatrics Source Type: research

Promise(s) of using mesenchymal stem cells in reproductive disorders.
Abstract In recent times, infertility among both man and woman has become a major concern affecting about 20 per cent of the population worldwide and has been attributed in part to several aetiological factors such as changes in lifestyle, which includes sedentary life, dietary habits, sleep anomalies, environmental pollution, etc. Assisted reproductive technologies (ART) have come to the rescue of many such couples, but presence of metabolic disorders such as obesity, diabetes with insulin resistance (IR) and its secondary complications (micro- and macro-vascular complications), become confounders to the outcome ...
Source: Indian J Med Res - November 1, 2014 Category: Research Authors: Venkatesan V, Madhira SL Tags: Indian J Med Res Source Type: research