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 - Category: General Medicine Source Type: research

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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 - Category: Physiology Source Type: research
Abstract A point mutation of mitochondrial DNA (mtDNA) at nucleotide position 3243 A to G (mt.3243A>G) is involved in many common diseases, including maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes (MELAS). However, the mutant level of mt.3243A>G varies both among individuals and in different organs, tissues, and even cells of single individuals. For detection of this mutation, current methods have limited universality and sensitivity and may be not adequate for a routine clinical test. Here, we develop and evaluate a rapid TaqM...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
Mitochondrial diseases represent a significant clinical challenge. Substantial efforts have been devoted to identifying therapeutic strategies for mitochondrial disorders, but effective interventions have remained elusive. Recently, we reported attenuation of disease in a mouse model of the human mitochondrial disease Leigh syndrome through pharmacological inhibition of the mechanistic target of rapamycin (mTOR). The human mitochondrial disorder MELAS/MIDD (Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes/Maternally Inherited Diabetes and Deafness) shares many phenotypic characteristics with Leigh syndrome.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Clinical Trial Source Type: research
CONCLUSIONS: Cardiac involvement in m.3243A>G carriers has been only rarely systematically studied, which is perhaps why the incidence of cardiac diseases in MELAS is lower than would be expected. Myocardial abnormalities are much more frequent than arrhythmias or conduction defects. All symptomatic and asymptomatic m.3243A>G carriers should be systematically investigated for cardiac disease. PMID: 30128910 [PubMed - as supplied by publisher]
Source: Herz - Category: Cardiology Tags: Herz Source Type: research
Fight Aging! provides a weekly digest of news and commentary for thousands of subscribers interested in the latest longevity science: progress towards the medical control of aging in order to prevent age-related frailty, suffering, and disease, as well as improvements in the present understanding of what works and what doesn't work when it comes to extending healthy life. Expect to see summaries of recent advances in medical research, news from the scientific community, advocacy and fundraising initiatives to help speed work on the repair and reversal of aging, links to online resources, and much more. This content is...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Conclusions:Patients with MELAS syndrome may present with recurrent strokes in the arterial territory rather than SLEs. Clinicians should entertain the possibility of a mitochondrial disease in young patients with cryptogenic stroke and pursue appropriate diagnostic evaluations and treatment.Disclosure: Dr. Liaw has nothing to disclose. Dr. Lewis has nothing to disclose. Dr. Saini has nothing to disclose. Dr. Gultekin has nothing to disclose. Dr. Koch has nothing to disclose. Dr. Asdaghi has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: Genetic Stroke Syndromes, Biomarkers, and Translational/Basic Research Source Type: research
​BY CHRISTINE SHEELER; SEEMA ELAHI, MDA 46-year-old man presented to the ED with multiple complaints, including fatigue and dizziness for one day. His primary care physician had diagnosed him with diabetes the previous day, and had prescribed him an oral hypoglycemic as well as insulin. Neither, however, was started at the time of presentation. The patient had a medical history significant for HIV, with his most recent CD4 count above 500, and bilateral sensorineural hearing loss, which had progressively worsened since its initial onset in his 20s. His physical exam was unremarkable except for decreased hearing bilateral...
Source: The Case Files - Category: Emergency Medicine Tags: Blog Posts Source Type: research
In this report we describe these three families. Based on detailed mtDNA analysis of three different tissues using two different quantitative pyrosequencing assays with sensitivity to a level of 1% mutated mtDNA, we conclude that the m.3243A>G mutation has arisen de novo in each of these families. The symptomatic carriers presented with a variety of symptoms frequently observed in patients harbouring the m.3243A>G mutation. A more severe phenotype is seen in the de novo families compared to recent cohort studies, which might be due to reporting bias. The observation that de novo m.3243A>G mutations exist is of rel...
Source: BBA Clinical - Category: Biochemistry Source Type: research
Mitochondrial diseases are a group of heterogeneous disorders caused by inherited mutations in the mitochondrial genome (mtDNA) and nuclear genome. Typically, mutations in the mtDNA are maternally inherited and cause respiratory chain defects and account for a substantial fraction of childhood and adult neurometabolic disease, with an estimated prevalence of 1:5000 (0.02%). The most common mtDNA mutation is the mitochondrial 3243A>G mutation (m.3243A>G) in the MTTL1 gene (OMIM 590050), which encodes the transfer RNA tRNALeu(UUR). This mutation is associated with multiple clinical and psychiatric manifestations, inclu...
Source: JAMA Neurology - Category: Neurology Source Type: research
In this report we describe these three families. Based on detailed mtDNA analysis of three different tissues using two different quantitative pyrosequencing assays with sensitivity to a level of 1% mutated mtDNA, we conclude that the m.3243A>G mutation has arisen de novo in each of these families. The symptomatic carriers presented with a variety of symptoms frequently observed in patients harbouring the m.3243A>G mutation. A more severe phenotype is seen in the de novo families compared to recent cohort studies, which might be due to reporting bias. The observation that de novo m.3243A>G mutations exist is of rel...
Source: BBA Clinical - Category: Biochemistry Source Type: research
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