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Mitochondrial cytopathy

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https://www.readbyqxmd.com/read/29080241/next-generation-sequencing-in-pediatric-hepatology-and-liver-transplantation
#1
REVIEW
Emanuele Nicastro, Lorenzo D'Antiga
Next Generation Sequencing (NGS) has revolutionized the analysis of human genetic variations, offering a highly cost-effective way to diagnose monogenic diseases (MDs). Since nearly half of children with chronic liver disorders have a genetic cause and approximately 20% of pediatric liver transplants are performed in children with MDs, NGS offers the opportunity to significantly improve the diagnostic yield in this field. Among the NGS strategies, the use of targeted gene panels has proven useful to rapidly and reliably confirm a clinical suspicion, whereas the whole exome sequencing (WES) with variants filtering has been adopted to assist the diagnostic work up in unclear clinical scenarios...
October 28, 2017: Liver Transplantation
https://www.readbyqxmd.com/read/28807341/ultrastructural-examination-of-skin-biopsies-may-assist-in-diagnosing-mitochondrial-cytopathy-when-muscle-biopsies-yield-negative-results
#2
John L McAfee, Christine B Warren, Richard A Prayson
Ultrastructural evaluation of skin biopsies has been utilized for diagnosis of mitochondrial disease. This study investigates how frequently skin biopsies reveal mitochondrial abnormalities, correlates skin and muscle biopsy findings, and describes clinical diagnoses rendered following the evaluation. A retrospective review of surgical pathology reports from 1990 to 2015 identified skin biopsies examined by electron microscopy for suspected metabolic disease. A total of 630 biopsies were included from 615 patients...
August 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28695670/mitochondrial-dysfunction-and-cerebral-metabolic-abnormalities-in-patients-with-mitochondrial-encephalomyopathy-subtypes-evidence-from-proton-mr-spectroscopy-and-muscle-biopsy
#3
Feng-Nan Niu, Hai-Lan Meng, Lei-Lei Chang, Hong-Yan Wu, Wei-Ping Li, Ren-Yuan Liu, Hui-Ting Wang, Bing Zhang, Yun Xu
AIMS: Accumulated evidence indicates that cerebral metabolic features, evaluated by proton magnetic resonance spectroscopy ((1) H-MRS), are sensitive to early mitochondrion dysfunction associated with mitochondrial encephalomyopathy (ME). The metabolite ratios of lactate (lac)/Cr, N-acetyl aspartate (NAA)/creatine (Cr), total choline (tCho)/Cr, and myoinositol (mI)/Cr are measured in the infarct-like lesions by (1) H-MRS and may reveal metabolic changes associated with ME. However, the application of this molecular imaging technique in the investigation of the pathology of ME subtypes is unknown...
August 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28577739/mitochondrial-cytopathies-and-the-kidney
#4
REVIEW
Francesco Emma, Leonardo Salviati
Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized by impaired oxidative phosphorylation. Current evidence suggests that renal involvement is probably more frequent than originally suspected but remains subclinical in a significant number of patients or is underestimated due to the severity of other clinical manifestations. Until recently, these diseases were thought to develop primarily in pediatric patients but patients that become symptomatic only in adulthood are now well recognized...
April 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28283275/kidney-involvement-in-melas-syndrome-description-of-2-cases
#5
Pau Alcubilla-Prats, Manel Solé, Albert Botey, Josep Maria Grau, Glòria Garrabou, Esteban Poch
INTRODUCTION: MELAS syndrome -myopathy, encephalopathy, lactic acidosis and stroke-like episodes- is a maternally-inherited mitochondrial cytopathy related to several mitochondrial DNA mutations, with the A3243G mutation in tRNA(Leu) gene being the most frequent of them. PATIENTS AND METHODS: Apart from its typical symptomatology, patients usually exhibit a maternally-inherited history of neurosensory deafness and insulin-dependent type 2 diabetes mellitus (T2DM)...
April 21, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28202819/-melas-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes
#6
REVIEW
Hidetomo Murakami, Kenjiro Ono
Mitochondrial disease is caused by a deficiency in the energy supply to cells due to mitochondrial dysfunction. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial disease that presents with stroke-like episodes such as acute onset of neurological deficits and characteristic imaging findings. Stroke-like episodes in MELAS have the following features: 1) neurological deficits due to localization of lesions in the brain, 2) episodes often accompany epilepsy, 3) lesions do not follow the vascular supply area, 4) lesions are more often seen in the posterior brain than in the anterior brain, 5) lesions spread to an adjacent area in the brain, and 6) neurological symptoms often disappear together with imaging findings, but later relapse...
February 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28117207/coq6-mutations-in-children-with-steroid-resistant-focal-segmental-glomerulosclerosis-and-sensorineural-hearing-loss
#7
Eujin Park, Yo Han Ahn, Hee Gyung Kang, Kee Hwan Yoo, Nam Hee Won, Kyoung Bun Lee, Kyung Chul Moon, Moon-Woo Seong, Tae Rin Gwon, Sung Sup Park, Hae Il Cheong
The phenotypic combination of steroid-resistant focal segmental glomerulosclerosis (SR-FSGS) and sensorineural hearing loss has been mainly reported in patients with mitochondrial cytopathies, including primary coenzyme Q10 (CoQ10) deficiency. In this report of 10 children with SR-FSGS and sensorineural hearing loss, we found 6 patients with biallelic COQ6 mutations. Median age at the onset of nephrotic syndrome was 29 (range, 15-47) months. All patients progressed to end-stage renal disease within a median of 13 (range, 1-27) months after the onset...
July 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/27881060/mtdna-damage-associated-with-mitochondrial-cytopathies
#8
Anastasia I Ryzhkova, Margarita A Sazonova, Vasily V Sinyov, Elena V Galitsyna, Mariуa M Chicheva, Alexandra A Melnichenko, Zukhra B Khasanova, Andrey V Zhelankin, Konstantin Y Mitrofanov, Anton Yu Postnov, Alexander N Orekhov, Igor A Sobenin
Mitochondrial cytopathies are a group of diseases which occur in case of disturbance of the functional activity of mitochondria. Mitochondrial diseases are a heterogeneous group of multiple organ pathologies, mainly affecting the nervous and muscular systems. The causes of mitochondrial cytopathies may be nuclear genome mutations occurring in genes coding mitochondrial proteins and mitochondrial genome mutations which occur sporadically or maternally inherited. At the present time many factors leading to the occurrence of mutations are known...
November 23, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27878137/mitochondrial-cytopathy-with-common-melas-mutation-presenting-as-multiple-system-atrophy-mimic
#9
Anne-Katrin Pröbstel, André Schaller, Johanna Lieb, Juergen Hench, Stephan Frank, Peter Fuhr, Ludwig Kappos, Michael Sinnreich
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome(1) is one of the most frequently inherited mitochondrial disorders. MELAS syndrome is a systemic disease with multiple organ involvement.(2) The most common mutation in MELAS is the m.3243A>G mutation in the MT-TL1 gene.(2).
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27721218/not-for-adults-only-mitraclip-use-in-a-paediatric-patient
#10
Denise C Joffe, Thomas K Jones, Mark Reisman, Elizabeth Perpetua, Yuk Law, Andreas Schuler, G Burkhard Mackensen
We present the primary report of a paediatric patient who had placement of the MitraClip device for severe functional mitral regurgitation. The patient was a 14-year-old boy with symptomatic end-stage non-compaction type cardiomyopathy secondary to a mitochondrial cytopathy. He had severe mitral regurgitation, tricuspid valve regurgitation, a severely dilated LV with apical non-compaction, severe LV dysfunction and severe pulmonary hypertension. Despite optimal medical therapy he developed progressive symptoms of congestive heart failure and he was not a candidate for an assist device or cardiac transplantation...
October 10, 2016: EuroIntervention
https://www.readbyqxmd.com/read/27372878/is-age-related-failure-of-metabolic-reprogramming-a-principal-mediator-in-idiopathic-parkinson-s-disease-implications-for-treatment-and-inverse-cancer-risk
#11
Peter A Engel
Idiopathic Parkinson's disease (IPD) is a neurodegenerative disorder characterized by selective degeneration of the substantia nigra pars compacta (SNc), dorsal motor nucleus of the vagus and other vulnerable nervous system regions characterized by extensive axonal arborization and intense energy requirements. Systemic age-related depression of mitochondrial function, oxidative phosphorylation (OXPHOS) and depressed expression of genes supporting energy homeostasis is more severe in IPD than normal aging such that energy supply may exceed regional demand...
August 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/26996063/mitochondrial-cytopathies
#12
REVIEW
Ayman W El-Hattab, Fernando Scaglia
Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Most of mitochondrial proteins are encoded by the nuclear DNA (nDNA) whereas a very small fraction is encoded by the mitochondrial DNA (mtDNA). Mutations in mtDNA or mitochondria-related nDNA genes can result in mitochondrial dysfunction which leads to a wide range of cellular perturbations including aberrant calcium homeostasis, excessive reactive oxygen species production, dysregulated apoptosis, and insufficient energy generation to meet the needs of various organs, particularly those with high energy demand...
September 2016: Cell Calcium
https://www.readbyqxmd.com/read/26935953/sigmoid-volvulus-in-a-patient-with-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-melas-a-rare-occurrence
#13
Alexander Hallac, Hari B Keshava, Gareth Morris-Stiff, Samuel Ibrahim
Mitochondrial diseases are rare and devastating, with a wide spectrum of clinical presentations and systemic symptoms. The majority of the published literature focuses on the neuromuscular manifestations and genetic components of this mitochondrial cytopathy, however, cardiac, renal, endocrine and gastrointestinal manifestations may also be present. The authors report a case detailing a 56-year-old woman's final hospitalisation from the gastrointestinal sequelae of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) (Co Q10 deficiency variant)...
March 2, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/26804019/mitochondrial-dysfunction-in-inherited-renal-disease-and-acute-kidney-injury
#14
REVIEW
Francesco Emma, Giovanni Montini, Samir M Parikh, Leonardo Salviati
Mitochondria are increasingly recognized as key players in genetic and acquired renal diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by tubular defects, but glomerular, tubulointerstitial and cystic diseases have also been described. For example, defects in coenzyme Q10 (CoQ10) biosynthesis and the mitochondrial DNA 3243 A>G mutation are important causes of focal segmental glomerulosclerosis in children and in adults, respectively. Although they sometimes present with isolated renal findings, mitochondrial diseases are frequently associated with symptoms related to central nervous system and neuromuscular involvement...
May 2016: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/26557169/a-case-of-mitochondrial-cytopathy-with-exertion-induced-dystonia
#15
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac
Paroxysmal dystonias are a group of relatively benign hyperkinetic childhood movement disorders of varied etiology. Mitochondrial diseases are well known to produce persistent dystonias as sequelae, but paroxysmal exertion induced dystonia has been reported in only one case to the best of our knowledge. Two siblings born to consanguineous parents presented with early-onset exertion induced dystonia, which was unresponsive to diphenylhydantoin and carbamazepine. A trial with valproate in one of the siblings turned fatal within 24 h...
July 2015: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/26443301/novel-brain-mri-abnormalities-in-gitelman-syndrome
#16
Ahmed El Beltagi, Alexander Norbash, Surjith Vattoth
Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. The syndrome is caused by a defective thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubules of the kidneys. Gitelman syndrome could be confused with Bartter syndrome; the main differentiating feature is the presence of low urinary calcium excretion in the former. Descriptions of neuroradiological imaging findings associated with Gitelman syndrome are very scarce in the literature and include basal ganglia calcification, idiopathic intracranial hypertension and sclerochoroidal calcification...
October 2015: Neuroradiology Journal
https://www.readbyqxmd.com/read/25684538/genetic-and-biochemical-intricacy-shapes-mitochondrial-cytopathies
#17
REVIEW
Douglass M Turnbull, Pierre Rustin
The major progress made in the identification of the molecular bases of mitochondrial disease has revealed the huge diversity of their origin. Today up to 300 mutations were identified in the mitochondrial genome and about 200 nuclear genes are possibly mutated. In this review, we highlight a number of features specific to mitochondria which possibly participate in the complexity of these diseases. These features include both the complexity of mitochondrial genetics and the multiplicity of the roles ensured by the organelles in numerous aspects of cell life and death...
August 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/25618784/potential-contributions-of-the-tobacco-nicotine-derived-nitrosamine-ketone-nnk-in-the-pathogenesis-of-steatohepatitis-in-a-chronic-plus-binge-rat-model-of-alcoholic-liver-disease
#18
Valerie Zabala, Ming Tong, Rosa Yu, Teresa Ramirez, Emine B Yalcin, Silvia Balbo, Elizabeth Silbermann, Chetram Deochand, Kavin Nunez, Stephen Hecht, Suzanne M de la Monte
AIMS: Alcoholic liver disease (ALD) is linked to binge drinking and cigarette smoking. Heavy chronic ± binge alcohol, or low-level exposures to dietary nitrosamines cause steatohepatitis with insulin resistance and oxidative stress in animal models. This study examines hepatotoxic effects of sub-mutagenic exposures to tobacco-specific nitrosamine (NNK) in relation to ALD. METHODS: Long Evans rats were fed liquid diets containing 0 or 26% (caloric) ethanol (EtOH) for 8 weeks...
March 2015: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/25582874/peripheral-neuropathy-and-parkinsonism-a-large-clinical-and-pathogenic-spectrum
#19
REVIEW
Anne Vital, Sebastien Lepreux, Claude Vital
Peripheral neuropathy (PN) has been reported in idiopathic and hereditary forms of parkinsonism, but the pathogenic mechanisms are unclear and likely heterogeneous. Levodopa-induced vitamin B12 deficiency has been discussed as a causal factor of PN in idiopathic Parkinson's disease, but peripheral nervous system involvement might also be a consequence of the underlying neurodegenerative process. Occurrence of PN with parkinsonism has been associated with a panel of mitochondrial cytopathies, more frequently related to a nuclear gene defect and mainly polymerase gamma (POLG1) gene...
December 2014: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/25565765/bilateral-lid-brow-elevation-procedure-for-severe-ptosis-in-kearns-sayre-syndrome-a-mitochondrial-cytopathy
#20
Roberto Sebastiá, Ester Fallico, Matteo Fallico, Eduardo Fortuna, Sergio Lessa, Guilherme Herzog Neto
BACKGROUND: The purpose of this work was to determine the effectiveness and possible complications encountered with bilateral fascia lata lid suspension used to correct blepharoptosis in patients with Kearns-Sayre syndrome. METHODS: This was a retrospective study of seven patients with Kearns-Sayre syndrome who had a minimum of 1 year of follow-up. A bilateral fascia lata sling was used to correct the ptosis. Preoperative and postoperative measurements of the vertical lid fissure width (VFW) and marginal reflex distance (MRD) were performed...
2015: Clinical Ophthalmology
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