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https://www.readbyqxmd.com/read/28062662/disease-causing-mutations-affecting-surface-residues-of-mitochondrial-glutaryl-coa-dehydrogenase-impair-stability-heteromeric-complex-formation-and-mitochondria-architecture
#1
Jessica Schmiesing, Benjamin Lohmöller, Michaela Schweizer, Henning Tidow, Søren W Gersting, Ania C Muntau, Thomas Braulke, Chris Mühlhausen
The neurometabolic disorder glutaric aciduria type 1 (GA1) is caused by mutations in the GCDH gene encoding the mitochondrial matrix protein glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes. Twenty percent of all pathogenic mutations affect single amino acid residues on the surface of GCDH resulting in a severe clinical phenotype. We report here on heterologous expression studies of 18 missense mutations identified in GA1 patients affecting surface amino acids. Western blot and pulse chase experiments revealed that the stability of half of the GCDH mutants was significantly reduced...
January 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28060873/assessment-of-anterior-cingulate-cortex-acc-and-left-cerebellar-metabolism-in-asperger-s-syndrome-with-proton-magnetic-resonance-spectroscopy-mrs
#2
Aya Goji, Hiromichi Ito, Kenji Mori, Masafumi Harada, Sonoka Hisaoka, Yoshihiro Toda, Tatsuo Mori, Yoko Abe, Masahito Miyazaki, Shoji Kagami
PURPOSE: Proton magnetic resonance spectroscopy (1H MRS) is a noninvasive neuroimaging method to quantify biochemical metabolites in vivo and it can serve as a powerful tool to monitor neurobiochemical profiles in the brain. Asperger's syndrome (AS) is a type of autism spectrum disorder, which is characterized by impaired social skills and restrictive, repetitive patterns of interest and activities, while intellectual levels and language skills are relatively preserved. Despite clinical aspects have been well-characterized, neurometabolic profiling in the brain of AS remains to be clear...
2017: PloS One
https://www.readbyqxmd.com/read/28055022/laboratory-diagnosis-of-creatine-deficiency-syndromes-a-technical-standard-and-guideline-of-the-american-college-of-medical-genetics-and-genomics
#3
J Daniel Sharer, Olaf Bodamer, Nicola Longo, Silvia Tortorelli, Mirjam M C Wamelink, Sarah Young
Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
January 5, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28047515/su-f-i-67-neurometabolic-effect-induced-by-repeated-exposure-to-dizocilpine-on-prefrontal-cortex-of-schizophrenic-animal-model-using-in-vivo-proton-magnetic-resonance-spectroscopy-at-9-4-t
#4
C-H Yoo, K-H Song, S-I Lim, D-C Woo, B-Y Choe
PURPOSE: Repeated exposure of dizocilpine (MK-801) can provide a pathophysiological model for progressive development of schizophrenia. In vivo proton magnetic resonance spectroscopy ((1) H MRS) was widely used for non-invasive measurement of neurometabolites, and assessment of disease-induced neurometabolic alterations. The purpose of this study was to investigate neurometabolic alteration in prefrontal cortex (PFC) with respect to progression (from first-episode to chronic stage) of schizophrenia by using in vivo (1) H MRS...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28041002/neurometabolic-abnormalities-in-treatment-resistant-depression
#5
Sanjay J Mathew, Marijn Lijffijt
No abstract text is available yet for this article.
January 1, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/28028868/neurometabolic-profiles-of-the-substantia-nigra-and-striatum-of-mptp-intoxicated-common-marmosets-an-in-vivo-proton-mrs-study-at-9-4%C3%A2-t
#6
Hwon Heo, Jae-Bum Ahn, Hyeong Hun Lee, Euna Kwon, Jun-Won Yun, Hyeonjin Kim, Byeong-Cheol Kang
Given the strong coupling between the substantia nigra (SN) and striatum (STR) in the early stage of Parkinson's disease (PD), yet only a few studies reported to date that have simultaneously investigated the neurochemistry of these two brain regions in vivo, we performed longitudinal metabolic profiling in the SN and STR of 1-methyl-1,2,3,6-tetrahydropyridine (MPTP)-intoxicated common marmoset monkey models of PD (n = 10) by using proton MRS ((1) H-MRS) at 9.4 T. T2 relaxometry was also performed in the SN by using MRI...
December 28, 2016: NMR in Biomedicine
https://www.readbyqxmd.com/read/28028858/mid-face-toddler-excoriation-syndrome-mites-a-new-paediatric-diagnosis
#7
S M Srinivas, V K Gowda, C M Owen, C Moss, R Hiremagalore
Chronic ulcerating lesions on the face are rarely seen in toddlers. Blistering disease, vasculitis, infections and self-mutilation due to neurometabolic disease can usually be excluded on clinical and histological grounds. In the absence of identifiable disease, such lesions are sometimes attributed to child abuse or fabricated illness. We describe three toddlers with chronic mid-face erosions, two from India and one from the UK. One had moderate developmental delay and one had had seizures. The lesions appeared to be self-inflicted, no underlying disease was identified and there was no suspicion of child abuse...
January 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28007989/cad-mutations-and-uridine-responsive-epileptic-encephalopathy
#8
Johannes Koch, Johannes A Mayr, Bader Alhaddad, Christian Rauscher, Jörgen Bierau, Reka Kovacs-Nagy, Karlien L M Coene, Ingrid Bader, Monika Holzhacker, Holger Prokisch, Hanka Venselaar, Ron A Wevers, Felix Distelmaier, Tilman Polster, Steffen Leiz, Cornelia Betzler, Tim M Strom, Wolfgang Sperl, Thomas Meitinger, Saskia B Wortmann, Tobias B Haack
Unexplained global developmental delay and epilepsy in childhood pose a major socioeconomic burden. Progress in defining the molecular bases does not often translate into effective treatment. Notable exceptions include certain inborn errors of metabolism amenable to dietary intervention. CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis. Alternatively, pyrimidines can be recycled from uridine. Exome sequencing in three families identified biallelic CAD mutations in four children with global developmental delay, epileptic encephalopathy, and anaemia with anisopoikilocytosis...
December 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28004277/tauroursodeoxycholic-bile-acid-arrests-axonal-degeneration-by-inhibiting-the-unfolded-protein-response-in-x-linked-adrenoleukodystrophy
#9
Nathalie Launay, Montserrat Ruiz, Laia Grau, Francisco J Ortega, Ekaterina V Ilieva, Juan José Martínez, Elena Galea, Isidre Ferrer, Erwin Knecht, Aurora Pujol, Stéphane Fourcade
The activation of the highly conserved unfolded protein response (UPR) is prominent in the pathogenesis of the most prevalent neurodegenerative disorders, such as Alzheimer's disease (AD), Parkinson's disease (PD) and amyotrophic lateral sclerosis (ALS), which are classically characterized by an accumulation of aggregated or misfolded proteins. This activation is orchestrated by three endoplasmic reticulum (ER) stress sensors: PERK, ATF6 and IRE1. These sensors transduce signals that induce the expression of the UPR gene programme...
December 21, 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/27984186/immunolocalization-of-glutaryl-coa-dehydrogenase-gcdh-in-adult-and-embryonic-rat-brain-and-peripheral-tissues
#10
Olivier Braissant, Paris Jafari, Noémie Remacle, Hong-Phuc Cudré-Cung, Sonia Do Vale Pereira, Diana Ballhausen
Glutaryl-CoA dehydrogenase (GCDH) is a mitochondrial enzyme that is involved in the degradation of tryptophan, lysine and hydroxylysine. Deficient enzyme activity leads to glutaric aciduria type-I (GA-I). This neurometabolic disease usually manifests with acute encephalopathic crises and striatal neuronal death in early childhood leading to an irreversible dystonic-dyskinetic movement disorder. Fronto-temporal atrophy and white matter changes are already present in the pre-symptomatic period. No detailed information on GCDH expression during embryonic development and in adulthood was available so far...
October 27, 2016: Neuroscience
https://www.readbyqxmd.com/read/27939821/multimodal-imaging-of-neurometabolic-pathology-due-to-traumatic-brain-injury
#11
REVIEW
John Darrell Van Horn, Avnish Bhattrai, Andrei Irimia
The impact of traumatic brain injury (TBI) involves a combination of complex biochemical processes beginning with the initial insult and lasting for days, months and even years post-trauma. These changes range from neuronal integrity losses to neurotransmitter imbalance and metabolite dysregulation, leading to the release of pro- or anti-apoptotic factors which mediate cell survival or death. Such dynamic processes affecting the brain's neurochemistry can be monitored using a variety of neuroimaging techniques, whose combined use can be particularly useful for understanding patient-specific clinical trajectories...
January 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#12
Hussein Algahtani, Saeed Ghamdi, Bader Shirah, Bader Alharbi, Raghad Algahtani, Abdulrahman Bazaid
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. METHODS: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process. We also review the literature comprehensively and summarize all published data about this disorder...
December 1, 2016: Neurological Research
https://www.readbyqxmd.com/read/27900344/neurovascular-coupling-develops-alongside-neural-circuits-in-the-postnatal-brain
#13
COMMENT
Mariel G Kozberg, Elizabeth M C Hillman
In the adult brain, increases in local neural activity are accompanied by increases in regional blood flow. This relationship between neural activity and hemodynamics is termed neurovascular coupling and provides the blood flow-dependent contrast detected in functional magnetic resonance imaging (fMRI). Neurovascular coupling is commonly assumed to be consistent and reliable from birth; however, numerous studies have demonstrated markedly different hemodynamics in the early postnatal brain. Our recent study in J...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27893013/proton-chemical-shift-imaging-of-the-brain-in-pediatric-and-adult-developmental-stuttering
#14
Joseph O'Neill, Zhengchao Dong, Ravi Bansal, Iliyan Ivanov, Xuejun Hao, Jay Desai, Elena Pozzi, Bradley S Peterson
Importance: Developmental stuttering is a neuropsychiatric condition of incompletely understood brain origin. Our recent functional magnetic resonance imaging study indicates a possible partial basis of stuttering in circuits enacting self-regulation of motor activity, attention, and emotion. Objective: To further characterize the neurophysiology of stuttering through in vivo assay of neurometabolites in suspect brain regions. Design, Setting, and Participants: Proton chemical shift imaging of the brain was performed in a case-control study of children and adults with and without stuttering...
January 1, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/27879386/mitochondrial-calcium-homeostasis-implications-for-neurovascular-and-neurometabolic-coupling
#15
REVIEW
Sridhar S Kannurpatti
Mitochondrial function is critical to maintain high rates of oxidative metabolism supporting energy demands of both spontaneous and evoked neuronal activity in the brain. Mitochondria not only regulate energy metabolism, but also influence neuronal signaling. Regulation of "energy metabolism" and "neuronal signaling" (i.e. neurometabolic coupling), which are coupled rather than independent can be understood through mitochondria's integrative functions of calcium ion (Ca(2+)) uptake and cycling. While mitochondrial Ca(2+) do not affect hemodynamics directly, neuronal activity changes are mechanistically linked to functional hyperemic responses (i...
November 22, 2016: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/27859928/microstructural-changes-of-brain-in-patients-with-aromatic-l-amino-acid-decarboxylase-deficiency
#16
Wang-Tso Lee, Jui-Hsiang Lin, Wen-Chin Weng, Steven Shinn-Forng Peng
Aromatic L-amino acid decarboxylase (AADC) deficiency is an uncommon inherited neurometabolic disease. The clinical presentations and MR findings in children with AADC deficiency were investigated. Total 12 children (6 boys, 6 girls), aged from 9 to 50 months (mean, 23 ±13 months), with AADC deficiency, were enrolled for analysis. Of 12 patients enrolled, clinical presentations included global developmental delay with generalized hypotonia in 12 (100%), dystonia in 12 (100%), oculogyric crisis in 12 (100%), and excessive sweating in 8 (67%)...
November 17, 2016: Human Brain Mapping
https://www.readbyqxmd.com/read/27857784/pyridoxine-dependent-convulsions-among-children-with-refractory-seizures-a-3-year-follow-up-study
#17
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, Sai Deepak, Ravi Teja, Seby Kuruthukulangara
INTRODUCTION: Epilepsy accounts for 1% of the global disease burden and about 8-10 million epilepsy patients live in India. About 30-40% of these patients become drug-resistant and land up with palliative or disease-modifying surgeries. This is a situation causing great concern in view of the psychosocial and economic burden on the patient and the family apart from severe cognitive and motor consequences, especially in children. Therefore, it is mandatory to have an insight into the wide spectrum of causes with reference to refractoriness to antiepileptic medications in children with epilepsy...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27830117/the-international-working-group-on-neurotransmitter-related-disorders-intd-a-worldwide-research-project-focused-on-primary-and-secondary-neurotransmitter-disorders
#18
Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, Gabriella Horvath, Roser Pons, Eduardo Lopez-Laso, Joaquín A Fernández-Ramos, Tomas Honzik, Toni Pearson, Jennifer Friedman, Sabine Scholl-Bürgi, Tessa Wassenberg, Sabine Jung-Klawitter, Oya Kuseyri, Kathrin Jeltsch, Manju A Kurian, Àngels Garcia-Cazorla
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases resulting in neurological impairment at any age from newborn to adulthood. METHODS AND RESULTS: The International Working Group on Neurotransmitter related Disorders (iNTD) is the first international network focusing on the study of primary and secondary neurotransmitter disorders...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27817865/mecr-mutations-cause-childhood-onset-dystonia-and-optic-atrophy-a-mitochondrial-fatty-acid-synthesis-disorder
#19
Gali Heimer, Juha M Kerätär, Lisa G Riley, Shanti Balasubramaniam, Eran Eyal, Laura P Pietikäinen, J Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M Silberstein, Chen Hoffmann, Annick Raas-Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J Kastaniotis, Bruria Ben-Zeev, Susan J Hayflick
Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defective mtFAS. Seven individuals from five unrelated families presented with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI. All affected individuals were found to harbor recessive mutations in MECR encoding the mitochondrial trans-2-enoyl-coenzyme A-reductase involved in human mtFAS...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27815831/current-perspective-of-stem-cell-therapy-in-neurodegenerative-and-metabolic-diseases
#20
REVIEW
Ajay Kumar, Karthikeyan Narayanan, Ravi Kumar Chaudhary, Sachin Mishra, Sundramurthy Kumar, Kumar Jayaseelan Vinoth, Parasuraman Padmanabhan, Balázs Gulyás
Neurodegenerative diseases have been an unsolved riddle for quite a while; to date, there are no proper and effective curative treatments and only palliative and symptomatic treatments are available to treat these illnesses. The absence of therapeutic treatments for neurodegenerative ailments has huge economic hit and strain on the society. Pharmacotherapies and various surgical procedures like deep brain stimulation are being given to the patient, but they are only effective for the symptoms and not for the diseases...
November 4, 2016: Molecular Neurobiology
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