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Molecular Genetics and Metabolism Reports

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https://www.readbyqxmd.com/read/27896132/divergent-clinical-outcomes-of-alpha-glucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state
#1
Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama, Yoh Umeda
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27896131/case-report-5%C3%A2-year-follow-up-of-adult-late-onset-mitochondrial-encephalomyopathy-with-lactic-acid-and-stroke-like-episodes-melas
#2
Kiri Sunde, Patrick R Blackburn, Anvir Cheema, Jennifer Gass, Jessica Jackson, Sarah Macklin, Paldeep S Atwal
Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that typically presents in childhood. We describe the follow-up of a patient who was diagnosed with late-onset MELAS at the age of 49. Her clinical course includes sensorineural hearing loss, seizures, and multiple episodes of stroke-like metabolic crises. Molecular genetic testing on whole blood revealed 31% heteroplasmy of a m.3243A > G variant in the mtDNA, the causative variant in approximately 80% of MELAS cases...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27896130/studies-of-the-autoinhibitory-segment-comprising-residues-31-60-of-the-prodomain-of-pcsk9-possible-implications-for-the-mechanism-underlying-gain-of-function-mutations
#3
Lene Wierød, Jamie Cameron, Thea Bismo Strøm, Trond P Leren
Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low density lipoprotein receptor (LDLR) at the cell surface and is internalized as a complex with the LDLR. In the acidic milieu of the sorting endosome, PCSK9 remains bound to the LDLR and prevents the LDLR from folding over itself to adopt a closed conformation. As a consequence, the LDLR fails to recycle back to the cell membrane. Even though it is the catalytic domain of PCSK9 that interacts with the LDLR at the cell surface, the structurally disordered segment consisting of residues 31-60 and which is rich in acidic residues, has a negative effect both on autocatalytic cleavage and on the activity of PCSK9 towards the LDLR...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27872820/nine-year-experience-in-gaucher-disease-diagnosis-at-the-spanish-reference-center-fundaci%C3%A3-n-jim%C3%A3-nez-d%C3%A3-az
#4
N V Ortiz-Cabrera, J Gallego-Merlo, C Vélez-Monsalve, R de Nicolas, S Fontao Mas, C Ayuso, M J Trujillo-Tiebas
BACKGROUND: Fundación Jiménez Díaz (FJD) is a reference center for genetic diagnosis of Gaucher disease (GD) in Spain. Genetic analyses of acid β-glucosidase (GBA) gene using different techniques were performed to search for new mutations, in addition to those previously and most frequently found in the Spanish population. Additionally, the study of the chitotriosidase (CHIT1) gene was used to assess the inflammatory status of patients in the follow-up of enzyme replacement therapy (ERT)...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27872819/diagnosis-of-a-mild-peroxisomal-phenotype-with-next-generation-sequencing
#5
Meredith J Ventura, Dianna Wheaton, Mingchu Xu, David Birch, Sara J Bowne, Lori S Sullivan, Stephen P Daiger, Annette E Whitney, Richard O Jones, Ann B Moser, Rui Chen, Michael F Wangler
Peroxisomal biogenesis disorders (PBD) are caused by mutations in PEX genes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural hearing loss, pigmentary retinopathy, and normal intellect. After testing for Usher syndrome was negative, he was found to have PBD through a research sequencing panel. When evaluating a patient with hearing loss and pigmentary retinopathy, mild PBD should be on the differential regardless of cognitive function...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27830119/the-first-mongolian-cases-of-phenylketonuria-in-selective-screening-of-inborn-errors-of-metabolism
#6
Jamiyan Purevsuren, Baasandai Bolormaa, Chogdon Narantsetseg, Renchindorj Batsolongo, Ochirbat Enkhchimeg, Munkhuu Bayalag, Yuki Hasegawa, Haruo Shintaku, SeijiYamaguchi
BACKGROUND: Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the products that are used to synthesize essential compounds. There is no report of screening results or confirmed cases of IEM in Mongolia. Only pilot study of newborn screening for congenital hypothyroidism was implemented in Mongolia, where the incidence of congenital hypothyroidism is calculated to be 1:3057 in Mongolia...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27830118/variable-phenotypic-expression-of-nonsense-mutation-p-thr5-in-the-apoe-gene
#7
Trond P Leren, Thea Bismo Strøm, Knut Erik Berge
Subjects with hypercholesterolemia who do not carry a mutation in the low density lipoprotein receptor gene, in the apolipoprotein B gene or in the proprotein convertase subtilisin/kexin type 9 gene, could possible carry a mutation in the apolipoprotein E (APOE) gene. DNA from 844 unrelated hypercholesterolemic subjects who did not carry a mutation in any of the three above mentioned genes, was subjected to DNA sequencing of the APOE gene. Two subjects were found to be heterozygous for mutation p.Thr5*. This mutation which generates a stop codon in the signal peptide, is assumed to prevent the synthesis of APOE...
December 2016: Molecular Genetics and Metabolism Reports
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
#8
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/27761413/liver-specific-knockout-of-arginase-1-leads-to-a-profound-phenotype-similar-to-inducible-whole-body-arginase-1-deficiency
#9
Laurel L Ballantyne, Yuan Yan Sin, Osama Y Al-Dirbashi, Xinzhi Li, David J Hurlbut, Colin D Funk
Arginase-1 (Arg1) converts arginine to urea and ornithine in the distal step of the urea cycle in liver. We previously generated a tamoxifen-inducible Arg1 deficient mouse model (Arg1-Cre) that disrupts Arg1 expression throughout the whole body and leads to lethality ≈ 2 weeks after gene disruption. Here, we evaluate if liver-selective Arg1 loss is sufficient to recapitulate the phenotype observed in global Arg1 knockout mice, as well as to gauge the effectiveness of gene delivery or hepatocyte transplantation to rescue the phenotype...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27761412/plasma-amino-acid-and-urine-organic-acid-profiles-of-filipino-patients-with-maple-syrup-urine-disease-msud-and-correlation-with-their-neurologic-features
#10
Mary Anne D Chiong, Marilyn A Tan, Cynthia P Cordero, Esphie Grace D Fodra, Judy S Manliguis, Cristine P Lopez, Leslie Michelle M Dalmacio
BACKGROUND: Maple syrup urine disease (MSUD) is the most common inborn error of metabolism in the country. The cause of the neuropathology is still not well established although accumulation of branched chain amino acids (BCAA) and alteration in large neutral amino acids (LNAA) as well as energy deprivation are suggested. It is therefore the aim of this study to determine the plasma amino acid and urine organic acid profiles of patients with MSUD and correlate the findings with their neurologic features...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27761411/30-months-follow-up-of-an-early-enzyme-replacement-therapy-in-a-severe-morquio-a-patient-about-one-case
#11
J Do Cao, A Wiedemann, T Quinaux, S F Battaglia-Hsu, L Mainard, R Froissart, C Bonnemains, S Ragot, B Leheup, P Journeau, F Feillet
: Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT at 21 months old for the next 30 months. Applying the standard ERT protocol on this very young patient appeared to reduce his urinary excretion of glycosaminoglycans (GAGs); the improvements in both the 6 minute-walk test (6MWT) and the stair climb test, however, were no different than those reported in the nature history study...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27752475/differential-gene-expression-during-early-development-in-brains-of-wildtype-and-biotinidase-deficient-mice
#12
Christian Brigolin, Nathan McKenty, Kirit Pindolia, Barry Wolf
Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous abnormalities. Untreated individuals with biotinidase deficiency cannot recycle biotin from biocytin (N-biotinyl-ϵ-lysine), the proteolytic digestion product of protein-bound biotin. Biotin therapy can markedly resolve symptoms, or can prevent the development of symptoms if initiated early. To understand better the pathogenesis of the neurological problems in the disorder in humans, we have compared gene transcription changes during the first week post-birth in the brains of biotinidase-deficient, transgenic, knock-out mice at days 1 and 8 and compared to changes in wildtype mice at the same times...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27752474/mitochondrial-vasculopathy-due-to-the-m-3243a%C3%A2-%C3%A2-g-mutation-is-not-restricted-to-the-carotid-artery
#13
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27747161/alglucosidase-alfa-treatment-alleviates-liver-disease-in-a-mouse-model-of-glycogen-storage-disease-type-iv
#14
Haiqing Yi, Fengqin Gao, Stephanie Austin, Priya S Kishnani, Baodong Sun
Patients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 weeks significantly reduced hepatic glycogen accumulation, lowered liver/body weight ratio, and reduced plasma ALP and ALT activities in GSD IV mice. Our data suggests that rhGAA is a potential therapy for GSD IV.
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27722093/lpin1-deficiency-a-novel-mutation-associated-with-different-phenotypes-in-the-same-family
#15
D Nunes, C Nogueira, A Lopes, P Chaves, E Rodrigues, T Cardoso, E Leão Teles, L Vilarinho
No abstract text is available yet for this article.
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27722092/stability-is-maintained-in-adults-with-gaucher-disease-type-1-switched-from-velaglucerase-alfa-to-eliglustat-or-imiglucerase-a-sub-analysis-of-the-eliglustat-encore-trial
#16
Rebecca Pleat, Timothy M Cox, T Andrew Burrow, Pilar Giraldo, Ozlem Goker-Alpan, Barry E Rosenbloom, Laura R Croal, Lisa H Underhill, Sebastiaan J M Gaemers, M Judith Peterschmitt
Gaucher disease type 1 is an autosomal recessive disorder caused by deficient activity of the lysosomal enzyme acid β-glucosidase resulting in accumulation of glucosylceramide and clinical manifestations of anemia, thrombocytopenia, hepatosplenomegaly, and skeletal disease. The historic standard of care is intravenous recombinant enzyme therapy with imiglucerase. Eliglustat, an oral substrate reduction therapy, is a first-line treatment for adults with Gaucher disease type 1 who have a compatible CYP2D6-metabolizer phenotype (≈ 95% of patients)...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27699154/methylmalonyl-coa-epimerase-deficiency-a-new-case-with-an-acute-metabolic-presentation-and-an-intronic-splicing-mutation-in-the-mcee-gene
#17
Paula J Waters, Fanny Thuriot, Joe T R Clarke, Serge Gravel, David Watkins, David S Rosenblatt, Sébastien Lévesque
Methylmalonyl-coA epimerase (MCE) follows propionyl-coA carboxylase and precedes methylmalonyl-coA mutase in the pathway converting propionyl-coA to succinyl-coA. MCE deficiency has previously been described in six patients, one presenting with metabolic acidosis, the others with nonspecific neurological symptoms or asymptomatic. The clinical significance and biochemical characteristics of this rare condition have been incompletely defined. We now describe a patient who presented acutely at 5 years of age with vomiting, dehydration, confusion, severe metabolic acidosis and mild hyperammonemia...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27668186/nephrocalcinosis-and-retinal-dystrophy-rare-manifestations-of-mpv17-related-mitochondrial-depletion-syndrome
#18
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27660747/neonatal-presentation-of-familial-glucocorticoid-deficiency-with-a-mrap-mutation-a-case-report
#19
Chun Chen, Rui Zhou, Yanlan Fang, Liqiong Jiang, Li Liang, Chunlin Wang
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder in which the adrenal cortex fails to respond appropriately to stimulation by adrenocorticotropic hormone (ACTH) to produce cortisol. The disease is characterized in laboratory testing by glucocorticoid deficiency and markedly elevated ACTH levels. FGD may present in infancy or early childhood with symptoms related to low cortisol and high ACTH, such as hyperpigmentation, severe hypoglycemia, failure to thrive and recurrent infections...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27656415/mitochondrial-m-3243a%C3%A2-%C3%A2-g-mutation-and-carotid-artery-dissection
#20
Michelangelo Mancuso, Vincenzo Montano, Daniele Orsucci, Lorenzo Peverelli, Luigi Caputi, Paola Gambaro, Gabriele Siciliano, Costanza Lamperti
The common m.3243A > G mutation of the mitochondrial DNA tRNALeu (UUR) gene is a maternally inherited mutation causing a wide spectrum of neurological and multisystemic disorders, including MELAS, characterized by recurrent cerebral infarction from young age. Vascular pathology in mitochondrial diseases has been described for small vessels, while large vessels involvement in mitochondrial diseases is considered rare. Here we report two female patients harboring the m.3243A > G mutation, in whom the diagnosis of mitochondrial disease was made after acute dissection of the internal carotid arteries...
December 2016: Molecular Genetics and Metabolism Reports
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