Mitochondrial Disease and Coenzyme Q10 Deficiency: Commentary

Mitochondrial disorders may present from birth to adulthood and are characterized by dysfunction of the mitochondrial respiratory chain due to pathogenic variants in mitochondrial DNA (mtDNA) or nuclear DNA, with an estimated incidence of 1/5000 1. Mitochondrial disorders have a broad phenotypic spectrum and may fall into one of several classic phenotypic presentations (e.g., mitochondrial encephalopathy with lactic acidosis and stroke-like episodes: MELAS; Leber hereditary optic neuropathy: LHON; myoclonic epilepsy with ragged red fibers: MERRF, Kearns-Sayre syndrome: KSS, among others) or may present with variable symptoms not falling into a defined clinical disorder 2,3.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Editorials Source Type: research

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In this study, we investigated a panel of blood biomarkers in a cohort of 123 mitochondrial patients, with prominent neurological and muscular manifestations. These biomarkers included creatine, fibroblast growth factor 21 (FGF21) and growth/differentiation factor 15 (GDF-15), and the novel cell free circulating-mtDNA (ccf-mtDNA). All biomarkers were significantly increased in the patient group. After stratification by the specific phenotypes, ccf-mtDNA  was significantly increased in the Mitochondrial Encephalomyopathy Lactic Acidosis Stroke-like episodes syndrome (MELAS) group, and FGF21 and GDF-15 were significantl...
Source: Journal of Molecular Medicine - Category: Molecular Biology Source Type: research
In conclusion, sitting for prolonged periods of time without interruption is unfavorably associated with DBP and HDL cholesterol. Exercise Slows Inappropriate Growth of Blood Vessels in a Mouse Model of Macular Degeneration Excessive growth of blood vessels beneath the retina is a proximate cause of blindness in conditions such as macular degeneration. Researchers here provide evidence for physical activity to be influential in the pace at which this process of tissue...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Conclusion: Seizures lead to immune alterations within the immediate postictal period similar but not identical to stroke. The type of seizures determines the extent of immune alterations.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
AbstractThis is a letter to the Editor concerning the recently published article by Zerem et al. The paper described a 12yo female with multisystem mitochondrial disorder (MID) due to the compound heterozygous variants c.1963_1964dupAT and p.Ile382Met inOPA1 manifesting phenotypically with congenital nystagmus, developmental delay, visual impairment, gait ataxia, epilepsy, a stroke-like episode (SLE) with encephalopathy and vomiting, and hearing impairment. This interesting case could be more meaningful by providing more information about the treatment of the SLE/stroke-like lesion (SLL), about the morphological characteri...
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
CONCLUSION: The clinical presentation and imaging studies of MELAS in adults are variable and may mimic those of HSE. Antiviral therapy should be administered until the diagnosis of MELAS is definitive. Infection and metformin may have also precipitated MELAS manifestation in this patient. Clinicians should avoid potential mitochondrial-toxic drugs in these patients. PMID: 31867706 [PubMed - in process]
Source: Acta Neurologica Taiwanica - Category: Neurology Tags: Acta Neurol Taiwan Source Type: research
In this study, by adenovirus-mediated delivery and inducible transgenic mouse models, we demonstrate the proliferation of both HCs and SCs by combined Notch1 and Myc activation in in vitro and in vivo inner ear adult mouse models. These proliferating mature SCs and HCs maintain their respective identities. Moreover, when presented with HC induction signals, reprogrammed adult SCs transdifferentiate into HC-like cells both in vitro and in vivo. Finally, our data suggest that regenerated HC-like cells likely possess functional transduction channels and are able to form connections with adult auditory neurons. Epige...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Authors: Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR Abstract Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions are often under-appreciated among physicians. The first clinical manifestations of leukodystrophies are often nonspecific and can occur in different ages from neonatal to late adulthood periods. The diagnosis is, therefore, challenging in most cases.Area covered: Herein, the authors discuss different aspects of leukodystrophies. The authors used...
Source: Expert Review of Neurotherapeutics - Category: Neurology Tags: Expert Rev Neurother Source Type: research
CONCLUSIONS: The varied pharmacologic mechanisms of NBP involve many complex molecular mechanisms; however, there many unknown pharmacologic effects await further study. PMID: 31205106 [PubMed - in process]
Source: Chinese Medical Journal - Category: General Medicine Authors: Tags: Chin Med J (Engl) Source Type: research
Publication date: Available online 18 June 2019Source: NeuroscienceAuthor(s): K. Gzielo, Z. Soltys, Z. Rajfur, Z.K. SetkowiczAbstractKetogenic diet is reported to protect against cognitive decline, drug-resistant epilepsy, Alzheimer's Disease, damaging effect of ischemic stroke and many neurological diseases. Despite mounting evidence that this dietary treatment works, the exact mechanism of its protective activity is largely unknown. Ketogenic diet acts systemically, not only changing GABA signaling in neurons, but also influencing the reliance on mitochondrial respiration, known to be disrupted in many neurological disea...
Source: Neuroscience - Category: Neuroscience Source Type: research
CONCLUSIONS: The varied pharmacological mechanisms of NBP involve many complex molecular mechanisms; however, there many unknown pharmacological effects await further study.This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. PMID: 31107716 [PubMed - as supplied by publisher]
Source: Chinese Medical Journal - Category: General Medicine Authors: Tags: Chin Med J (Engl) Source Type: research
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