Person: Berry, Gerard
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Berry
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Gerard
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Berry, Gerard
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Publication De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome(Elsevier, 2018) Torres, Alcy; Brownstein, Catherine; Tembulkar, Sahil K.; Graber, Kelsey; Genetti, Casie; Kleiman, Robin J.; Sweadner, Kathleen; Mavros, Chrystal; Liu, Kevin X.; Smedemark-Margulies, Niklas; Maski, Kiran; Yang, Edward; Agrawal, Pankaj; Shi, Jiahai; Beggs, Alan; D'Angelo, Eugene; Lincoln, Sarah Hope; Carroll, Devon; Dedeoglu, Fatma; Gahl, William A.; Biggs, Catherine M.; Swoboda, Kathryn; Berry, Gerard; Gonzalez-Heydrich, JosephComplex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and Muckle-Wells syndrome who at age 5 years of age manifested perseverations that interfered with his functioning at home and at school. After age 6, he developed intermittent episodes of fatigue and somnolence lasting from hours to weeks that evolved over the course of months to more chronic hypersomnia. Whole exome sequencing showed three mutations in genes potentially involved in his clinical phenotype. The patient has a predicted pathogenic de novo heterozygous p.Ala681Thr mutation in the ATP1A3 gene (chr19:42480621C>T, GRCh37/hg19). Mutations in this gene are known to cause Alternating Hemiplegia of Childhood, Rapid Onset Dystonia Parkinsonism, and CAPOS syndrome, sometimes accompanied by autistic features. The patient also has compound heterozygosity for p.Arg490Lys/p.Val200Met mutations in the NLRP3 gene (chr1:247588214G>A and chr1:247587343G>A, respectively). NLRP3 mutations are associated in an autosomal dominant manner with clinically overlapping auto-inflammatory conditions including Muckle-Wells syndrome. The p.Arg490Lys is a known pathogenic mutation inherited from the patient's father. The p.Val200Met mutation, inherited from his mother, is a variant of unknown significance (VUS). Whether the de novoATP1A3mutation is responsible for or plays a role in the patient's episodes of fatigue and somnolence remains to be determined. The unprecedented combination of two NLRP3 mutations may be responsible for other aspects of his complex phenotype.Publication Impaired fertility and motor function in a zebrafish model for classic galactosemia(Springer Netherlands, 2017) Vanoevelen, Jo M.; van Erven, Britt; Bierau, Jörgen; Huang, Xiaoping; Berry, Gerard; Vos, Rein; Coelho, Ana I.; Rubio-Gozalbo, M. EstelaClassic galactosemia is a genetic disorder of galactose metabolism, caused by severe deficiency of galactose-1-phosphate uridylyltransferase (GALT) enzyme activity due to mutations of the GALT gene. Its pathogenesis is still not fully elucidated, and a therapy that prevents chronic impairments is lacking. In order to move research forward, there is a high need for a novel animal model, which allows organ studies throughout development and high-throughput screening of pharmacologic compounds. Here, we describe the generation of a galt knockout zebrafish model and present its phenotypical characterization. Using a TALEN approach, a galt knockout line was successfully created. Accordingly, biochemical assays confirm essentially undetectable galt enzyme activity in homozygotes. Analogous to humans, galt knockout fish accumulate galactose-1-phosphate upon exposure to exogenous galactose. Furthermore, without prior exposure to exogenous galactose, they exhibit reduced motor activity and impaired fertility (lower egg quantity per mating, higher number of unsuccessful crossings), resembling the human phenotype(s) of neurological sequelae and subfertility. In conclusion, our galt knockout zebrafish model for classic galactosemia mimics the human phenotype(s) at biochemical and clinical levels. Future studies in our model will contribute to improved understanding and management of this disorder. Electronic supplementary material The online version of this article (doi:10.1007/s10545-017-0071-1) contains supplementary material, which is available to authorized users.Publication Fertility preservation in female classic galactosemia patients(BioMed Central, 2013) van Erven, Britt; Gubbels, Cynthia S; van Golde, Ron J; Dunselman, Gerard A; Derhaag, Josien G; de Wert, Guido; Geraedts, Joep P; Bosch, Annet M; Treacy, Eileen P; Welt, Corrine; Berry, Gerard; Rubio-Gozalbo, M EstelaAlmost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The unique pathophysiology of classic galactosemia with a severely reduced follicle pool at an early age requires an adjusted approach. In this article recommendations for physicians based on current knowledge concerning galactosemia and fertility preservation are made. Fertility preservation is only likely to be successful in very young prepubertal patients. In this group, cryopreservation of ovarian tissue is currently the only available technique. However, this technique is not ready for clinical application, it is considered experimental and reduces the ovarian reserve. Fertility preservation at an early age also raises ethical questions that should be taken into account. In addition, spontaneous conception despite POI is well described in classic galactosemia. The uncertainty surrounding fertility preservation and the significant chance of spontaneous pregnancy warrant counseling towards conservative application of these techniques. We propose that fertility preservation should only be offered with appropriate institutional research ethics approval to classic galactosemia girls at a young prepubertal age.Publication Uremic solutes and risk of end stage renal disease in type 2 diabetes(2014) Niewczas, Monika; Sirich, Tammy L; Mathew, Anna V; Skupien, Jan; Mohney, Robert P; Warram, James H; Smiles, Adam; Huang, Xiaoping; Walker, Walker; Byun, Jaeman; Karoly, Edward D; Kensicki, Elizabeth M; Berry, Gerard; Bonventre, Joseph; Pennathur, Subramaniam; Meyer, Timothy W; Krolewski, AndrzejHere we studied plasma metabolomic profiles as determinants of progression to ESRD in patients with Type 2 diabetes (T2D). This nested case-control study evaluated 40 cases who progressed to ESRD during 8-12 years of follow-up and 40 controls who remained alive without ESRD from the Joslin Kidney Study cohort. Controls were matched with cases for baseline clinical characteristics; although controls had slightly higher eGFR and lower levels of urinary albumin excretion than T2D cases. Plasma metabolites at baseline were measured by mass spectrometry-based global metabolomic profiling. Of the named metabolites in the library, 262 were detected in at least 80% of the study patients. The metabolomic platform recognized 78 metabolites previously reported to be elevated in ESRD (uremic solutes). Sixteen were already elevated in the baseline plasma of our cases years before ESRD developed. Other uremic solutes were either not different or not commonly detectable. Essential amino acids and their derivatives were significantly depleted in the cases, whereas certain amino acid-derived acylcarnitines were increased. All findings remained statistically significant after adjustment for differences between study groups in albumin excretion rate, eGFR or HbA1c. Uremic solute differences were confirmed by quantitative measurements. Thus, abnormal plasma concentrations of putative uremic solutes and essential amino acids either contribute to progression to ESRD or are a manifestation of an early stage(s) of the disease process that leads to ESRD in T2D.Publication Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation(Elsevier, 2017) Berry, GerardPublication International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up(Springer Netherlands, 2016) Welling, Lindsey; Bernstein, Laurie E.; Berry, Gerard; Burlina, Alberto B.; Eyskens, François; Gautschi, Matthias; Grünewald, Stephanie; Gubbels, Cynthia; Knerr, Ina; Labrune, Philippe; van der Lee, Johanna H.; MacDonald, Anita; Murphy, Elaine; Portnoi, Pat A.; Õunap, Katrin; Potter, Nancy L.; Rubio-Gozalbo, M. Estela; Spencer, Jessica B.; Timmers, Inge; Treacy, Eileen P.; Van Calcar, Sandra C.; Waisbren, Susan; Bosch, Annet M.Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. A systematic review of the literature was performed, after key questions were formulated during an initial GalNet meeting. The first author and one of the working group experts conducted data-extraction. All experts were involved in data-extraction. Quality of the body of evidence was evaluated and recommendations were formulated. Whenever possible recommendations were evidence-based, if not they were based on expert opinion. Consensus was reached by multiple conference calls, consensus rounds via e-mail and a final consensus meeting. Recommendations addressing diagnosis, dietary treatment, biochemical monitoring, and follow-up of clinical complications were formulated. For all recommendations but one, full consensus was reached. A 93 % consensus was reached on the recommendation addressing age at start of bone density screening. During the development of this guideline, gaps of knowledge were identified in most fields of interest, foremost in the fields of treatment and follow-up. Electronic supplementary material The online version of this article (doi:10.1007/s10545-016-9990-5) contains supplementary material, which is available to authorized users.Publication Sodium-myoinositol cotransporter-1, SMIT1, mediates the production of reactive oxygen species induced by hyperglycemia in the heart(Nature Publishing Group, 2017) Van Steenbergen, Anne; Balteau, Magali; Ginion, Audrey; Ferté, Laura; Battault, Sylvain; Ravenstein, Christophe de Meester de; Balligand, Jean-Luc; Daskalopoulos, Evangelos-Panagiotis; Gilon, Patrick; Despa, Florin; Despa, Sanda; Vanoverschelde, Jean-Louis; Horman, Sandrine; Koepsell, Hermann; Berry, Gerard; Hue, Louis; Bertrand, Luc; Beauloye, ChristopheHyperglycemia (HG) stimulates the production of reactive oxygen species in the heart through activation of NADPH oxidase 2 (NOX2). This production is independent of glucose metabolism but requires sodium/glucose cotransporters (SGLT). Seven SGLT isoforms (SGLT1 to 6 and sodium-myoinositol cotransporter-1, SMIT1) are known, although their expression and function in the heart remain elusive. We investigated these 7 isoforms and found that only SGLT1 and SMIT1 were expressed in mouse, rat and human hearts. In cardiomyocytes, galactose (transported through SGLT1) did not activate NOX2. Accordingly, SGLT1 deficiency did not prevent HG-induced NOX2 activation, ruling it out in the cellular response to HG. In contrast, myo-inositol (transported through SMIT1) reproduced the toxic effects of HG. SMIT1 overexpression exacerbated glucotoxicity and sensitized cardiomyocytes to HG, whereas its deletion prevented HG-induced NOX2 activation. In conclusion, our results show that heart SMIT1 senses HG and triggers NOX2 activation. This could participate in the redox signaling in hyperglycemic heart and contribute to the pathophysiology of diabetic cardiomyopathy.Publication Bumetanide Enhances Phenobarbital Efficacy in a Rat Model of Hypoxic Neonatal Seizures(Public Library of Science, 2013) Cleary, Ryan T.; Sun, Hongyun; Huynh, Thanhthao; Manning, Simon; Li, Yijun; Rotenberg, Alexander; Talos, Delia M.; Kahle, Kristopher T.; Jackson, Michele; Rakhade, Sanjay N.; Berry, Gerard; Jensen, Frances ElizabethNeonatal seizures can be refractory to conventional anticonvulsants, and this may in part be due to a developmental increase in expression of the neuronal Na+-K+-2 Cl− cotransporter, NKCC1, and consequent paradoxical excitatory actions of GABAA receptors in the perinatal period. The most common cause of neonatal seizures is hypoxic encephalopathy, and here we show in an established model of neonatal hypoxia-induced seizures that the NKCC1 inhibitor, bumetanide, in combination with phenobarbital is significantly more effective than phenobarbital alone. A sensitive mass spectrometry assay revealed that bumetanide concentrations in serum and brain were dose-dependent, and the expression of NKCC1 protein transiently increased in cortex and hippocampus after hypoxic seizures. Importantly, the low doses of phenobarbital and bumetanide used in the study did not increase constitutive apoptosis, alone or in combination. Perforated patch clamp recordings from ex vivo hippocampal slices removed following seizures revealed that phenobarbital and bumetanide largely reversed seizure-induced changes in EGABA. Taken together, these data provide preclinical support for clinical trials of bumetanide in human neonates at risk for hypoxic encephalopathy and seizures.Publication Psychosocial Developmental Milestones in Men With Classic Galactosemia(Springer Netherlands, 2011) Gubbels, Cynthia Sophia; Maurice-Stam, Heleen; Berry, Gerard; Bosch, Annet Maria; Waisbren, Susan; Rubio-Gozalbo, Maria Estela; Grootenhuis, Martha AlexandraPatients with classic galactosemia suffer from several long term effects of their disease. Research in a group of mainly female patients has shown that these patients may also have a developmental delay with regard to their social aptitude. To study if male galactosemia patients achieve psychosocial developmental milestones more slowly than male peers from the general Dutch population, we assessed their development with the Course of Life Questionnaire (CoLQ). A total of 18 male galactosemia patients participated in this study (response rate 69%): 11 Dutch patients and seven American patients. We found severe delays in the social and psychosexual scales of this questionnaire, but not on the autonomy axis. These results are comparable to an earlier study with a limited number of male patients. The observed delays could be secondary to less developed social skills, cognitive dysfunction, or disrupted language development. We strongly recommend screening of galactosemia patients for developmental delays, to ensure early intervention through social skills training.