“Myo-cardiomyopathy” is commonly associated with the A8344G “MERRF” mutation

The objective of the study was to better characterize the clinical phenotype associated with the A8344G “MERRF” mutation of mitochondrial DNA. Fifteen mutated patients were extensively investigated. The frequency of main clinical features was: exercise intolerance and/or muscle weakness 67 %, respiratory involvement 67 %, lactic acidosis 67 %, cardiac abnormalities 53 %, peripheral neuropathy 47 %, myoclonus 40 %, epilepsy 40 %, ataxia 13 %. A restrictive respiratory insufficiency requiring ventilatory support was observed in about half of our patients. One patient developed a severe and rapidly progressive cardiomyopathy requiring cardioverter-defibrillator implantation. Five patients died of overwhelming, intractable lactic acidosis. Serial muscle MRIs identified a consistent pattern of muscle involvement and progression. Cardiac MRI showed non-ischemic late gadolinium enhancement in the left ventricle inferolateral part as early sign of myocardial involvement. Brain spectroscopy demonstrated increased peak of choline and reduction of N-acetylaspartate. Lactate was never detected in brain areas, while it could be documented in ventricles. We confirm that muscle involvement is the most frequent clinical feature associated with A8443G mutation. In contrast with previous reports, however, about half of our patients did not develop signs of CNS involvement even in later stages of the disease. The difference may be related to t...
Source: Journal of Neurology - Category: Neurology Source Type: research

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Authors: Lizardo K, Ayyappan JP, Ganapathi U, Dutra WO, Qiu Y, Weiss LM, Nagajyothi JF Abstract Chagas disease is caused by Trypanosoma cruzi which is endemic in Latin America. T. cruzi infection results in a latent infection with approximately a third of latently infected patients developing chronic Chagas cardiomyopathy (CCM). CCM is a common cause of cardiomyopathy in endemic regions and has a poor prognosis compared to other cardiomyopathies. The factors responsible for the transition from the asymptomatic indeterminate latent stage of infection to CCM are poorly understood. Our previous studies demonstrated th...
Source: Disease Markers - Category: Laboratory Medicine Tags: Dis Markers Source Type: research
This study provides strong evidence that following a healthy lifestyle can substantially extend the years a person lives disease-free." Commentary on Recent Evidence for Cognitive Decline to Precede Amyloid Aggregation in Alzheimer's Disease https://www.fightaging.org/archives/2020/01/commentary-on-recent-evidence-for-cognitive-decline-to-precede-amyloid-aggregation-in-alzheimers-disease/ I can't say that I think the data presented in the research noted here merits quite the degree of the attention that it has been given in the popular science press. It is interesting, but not compelling if its role...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
ConclusionIt is envisaged that the current review will add value to more scientific research on M. flabellifolius and enhance/promote the increased interest in the sustainable commercialization of M. flabellifolius herbal tea as well as lead to the validation of unverified ethnobotanical claims.Graphical abstract
Source: Journal of Ethnopharmacology - Category: Drugs & Pharmacology Source Type: research
Contributors : Simon Dankel ; Regine Asen ; Laurence Dyer ; Divya PriyankaSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensObesity, and visceral adiposity in particular, increases the risk of common metabolic diseases, including type 2 diabetes, cardiovascular disease, and several forms of cancer. However, the molecular mechanisms responsible for regional fat storage remain poorly characterized, preventing therapeutic innovation. We here applied a systematic genome-wide screen and translational approach, and discovered a novel role for the adipocyte-expressed neutral amino acid transpo...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Contributors : Simon Dankel ; Regine AsenSeries Type : Expression profiling by high throughput sequencingOrganism : Danio rerioObesity, and visceral adiposity in particular, increases the risk of common metabolic diseases, including type 2 diabetes, cardiovascular disease, and several forms of cancer. However, the molecular mechanisms responsible for regional fat storage remain poorly characterized, preventing therapeutic innovation. We here applied a systematic genome-wide screen and translational approach, and discovered a novel role for the adipocyte-expressed neutral amino acid transporter SLC7A10/ASC-1 in the regulati...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Danio rerio Source Type: research
Publication date: Available online 17 January 2020Source: Canadian Journal of CardiologyAuthor(s): Sarah AM. Cuddy, Rodney H. FalkAbstractThe systemic amyloidoses are a group of diseases, all characterized by the deposition of amyloid, a material formed from misfolding of proteins, in one or more organs. The 2 commonest forms of amyloidosis, transthyretin amyloidosis (derived from wild-type {ATTRwt} or mutant transthyretin {ATTRm}) and light chain (AL) amyloidosis, derived from abnormal circulating light chains produced by a plasma cell dyscrasia. Both frequently involve the heart, producing an infiltrative cardiomyopathy ...
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
Publication date: Available online 17 January 2020Source: Neuroscience LettersAuthor(s): Lauren M. Styczynski, Katie A. Schappacher, Mark L. BacceiAbstractEarly life administration of vincristine (VNC), commonly used to treat pediatric leukemia, evokes peripheral neuropathy and mechanical pain hypersensitivity in rats that lasts into adolescence. However, the degree to which VNC-evoked neuropathic pain persists throughout adulthood has yet to be examined. It also remains unclear if pediatric VNC exposure can ‘prime’ developing nociceptive pathways and thereby exacerbate chronic pain following subsequent trauma ...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
Publication date: Available online 17 January 2020Source: Neurochemistry InternationalAuthor(s): Pamela R. Westmark, Alejandra Gutierrez, Aaron K. Gholston, Taralyn M. Wilmer, Cara J. WestmarkAbstractThe ketogenic diet is highly effective at attenuating seizures in refractory epilepsy and accumulating evidence in the literature suggests that it may be beneficial in autism. To our knowledge, no one has studied the ketogenic diet in any fragile X syndrome (FXS) model. FXS is the leading known genetic cause of autism. Herein, we tested the effects of chronic ketogenic diet treatment on seizures, body weight, ketone and glucos...
Source: Neurochemistry International - Category: Neuroscience Source Type: research
Publication date: Available online 17 January 2020Source: Journal of Clinical NeuroscienceAuthor(s): Marius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee, Thanin Wechapinan, Chalurmpon Srichomthomg, Chupong Ittiwut, Martin Krenn, Fritz Zimprich, Ivan Milenkovic, Angela Abicht, Saskia Biskup, Timo Roser, Vorasuk Shotelersuk, Moritz Tacke, Marianne Kuersten, Matias Wagner, Ingo Borggraefe, Kanya Suphapeetiporn, Celina von StülpnagelAbstractATP1A3 related disease is a clinically heterogeneous condition currently classified as alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism and cerebellar ataxia, ...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
Publication date: February 2020Source: Learning and Motivation, Volume 69Author(s): Fereshteh Keikhaei, Mohammad Ali Mirshekar, Mohammad Reza Shahraki, Alireza DashipourAbstractTemporal lobe epilepsy (TLE) causes impairment in learning and memory by causing neurological damage. Using the antioxidant and anti-inflammatory effects of myricitrin (MYC), the present study was conducted in order to investigate the neuroprotection effects of MYC in kainic acid (KA) induced- TLE experimental model.Forty male Wistar rats were divided into five groups: 1: Sham, 2: MYC, 3: TLE (epileptic group), 4: VA + TLE (valproic acid and KA ...
Source: Learning and Motivation - Category: Psychiatry & Psychology Source Type: research
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