Genetics of Phenylketonuria: Then and Now

Human Mutation - Tập 37 Số 6 - Trang 508-515 - 2016
Nenad Blau1
1Dietmar-Hopp-Metabolic Center, University Children’s Hospital, Heidelberg, Germany

Tóm tắt

Từ khóa


Tài liệu tham khảo

Arturo, 2016, First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer, Proc Natl Acad Sci U S A, 113, 2394, 10.1073/pnas.1516967113

K, 1974, A new molecular defect in phenylketonuria, Lancet, 2, 1580

Belanger-Quintana, 2012, Diet in phenylketonuria: a snapshot of special dietary costs and reimbursement systems in 10 international centers, Mol Genet Metab, 105, 390, 10.1016/j.ymgme.2011.12.004

Benit, 1999, The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency, Mol Genet Metab, 68, 43, 10.1006/mgme.1999.2886

Bercovich, 2008, Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene, J Hum Genet, 53, 407, 10.1007/s10038-008-0264-4

Bickel, 1953, Influence of phenylalanine intake on phenylketonuria, Lancet, 2, 812, 10.1016/S0140-6736(53)90473-5

Blau, 2010, Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency, Expert Rev Endocrinol Metab, 5, 483, 10.1586/eem.10.39

Blau, 1992, Atypical (mild) forms of dihydropteridine reductase deficiency-neurochemical evaluation and mutation detection, Pediatr Res, 32, 726, 10.1203/00006450-199212000-00021

Blau, 2015, Alternative therapies to address the unmet medical needs of patients with phenylketonuria, Expert Opin Pharmacother, 16, 1, 10.1517/14656566.2015.1013030

Blau, 2014, Molecular genetics and diagnosis of phenylketonuria: state of the art, Expert Rev Mol Diagn, 14, 655, 10.1586/14737159.2014.923760

Blau N Thöny B Cotton RGH Hyland K 2001 Disorders of tetrahydrobiopterin and related biogenic amines Scriver CR Beaudet AL Sly WS Valle D Childs B Vogelstein B The metabolic and molecular bases of inherited disease New York McGraw-Hill 1725 1776

Blau, 2010, Phenylketonuria, Lancet, 376, 1417, 10.1016/S0140-6736(10)60961-0

Buck, 1992, The child who never grew

Bueno, 2013, Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain, J Hum Genet, 58, 279, 10.1038/jhg.2013.16

Burlina A Blau N 2014 Tetrahydrobiopterin disorders presenting with hyperphenylalaninemia Hoffmann FG Blau N Congenital nueurotransmitter disorders: a clinical approach Huppauge, NY Nova Publishers Inc

Camp, 2014, Phenylketonuria Scientific Review Conference: state of the science and future research needs, Mol Genet Metab, 112, 87, 10.1016/j.ymgme.2014.02.013

Carluccio, 2015, Towards the identification of the allosteric Phe-binding site in phenylalanine hydroxylase, J Biomol Struct Dyn, 497

Cotton, 1986, A model for hyperphenylalaninaemia due to tetrahydrobiopterin deficiency, J Inherit Metab Dis, 9, 4, 10.1007/BF01813895

Cotton, 1986a, Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein, J Inherit Metab Dis, 9, 239, 10.1007/BF01799654

Cotton RGH Jennings IG Bracco G Ponzone A Guardamagna O 1986b Correlation of dihydropteridine reductase cross reacting material with non responsiveness to a tetrahydrobiopterin load Cooper BA Whitehead VM Chemistry and biology of pteridines, 1986 Berlin, Germany Walter de Gruyter 407 414

Dahl, 1987, Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency, Nucleic Acids Res, 15, 1921, 10.1093/nar/15.5.1921

Dahl, 1988, The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency, J Med Genet, 25, 25, 10.1136/jmg.25.1.25

Danecka, 2015, Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria, J Med Genet, 52, 175, 10.1136/jmedgenet-2014-102621

Daniele, 2009, Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy, FEBS J, 276, 2048, 10.1111/j.1742-4658.2009.06940.x

Danks, 1975, Tetrahydrobiopterin treatment of variant form of phenylketonuria, Lancet, 2, 1043, 10.1016/S0140-6736(75)90335-9

Danks, 1979, Diagnosis of malignant hyperphenylalaninaemia, Arch Dis Child, 54, 329, 10.1136/adc.54.5.329

Dianzani, 1998, Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations, Hum Mutat, 12, 267, 10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.0.CO;2-C

DiLella, 1987, An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2, Nature, 327, 333, 10.1038/327333a0

Eisensmith, 1992, Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene, Hum Mutat, 1, 13, 10.1002/humu.1380010104

Erlandsen, 2004, Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations, Proc Natl Acad Sci U S A, 101, 16903, 10.1073/pnas.0407256101

Erlandsen, 1999, The structural basis of phenylketonuria, Mol Genet Metab, 68, 103, 10.1006/mgme.1999.2922

Fiege, 2007, Assessment of tetrahydrobiopterin (BH4)-responsiveness in phenylketonuria, J Pediatr, 150, 627, 10.1016/j.jpeds.2007.02.017

Finger, 2004, Pearl S. Buck and phenylketonuria (PKU), J Hist Neurosci, 13, 44, 10.1080/09647040490885484

Firgaira, 1981a, Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency, Biochem J, 198, 677, 10.1042/bj1980677

Firgaira, 1981b, Molecular and immunological comparison of human dihydropteridine reductase in liver, cultured fibroblasts, and continuous lymphoid cells, Biochem J, 197, 45, 10.1042/bj1970045

Firgaira, 1979, Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells, Lancet, 2, 1260, 10.1016/S0140-6736(79)92279-7

Fölling, 1934, Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Inbicillität, Hoppe Seylers Z Physiol Chem, 227, 169, 10.1515/bchm2.1934.227.1-4.169

Forrest, 1991, Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples, Am J Hum Genet, 49, 175

Gamez, 2000, Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein, J Biol Chem, 275, 29737, 10.1074/jbc.M003231200

Gersting, 2008, Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability, Am J Hum Genet, 83, 5, 10.1016/j.ajhg.2008.05.013

Gjetting, 2001, In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation, Mol Genet Metab, 72, 132, 10.1006/mgme.2000.3118

Guthrie, 1963, A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, Pediatrics, 32, 338, 10.1542/peds.32.3.338

Heintz, 2013, Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase and importance of genotypes for pharmacological therapy of phenylketonuria, Hum Mutat, 34, 927, 10.1002/humu.22320

Howells, 1990, Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency, Am J Hum Genet, 47, 279

Jaffe, 2013, A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics, Arch Biochem Biophys, 530, 73, 10.1016/j.abb.2012.12.017

Jennings, 2000, Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria, Eur J Hum Genet, 8, 683, 10.1038/sj.ejhg.5200518

John, 1992, In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus, Hum Mutat, 1, 147, 10.1002/humu.1380010210

Kasnauskiene, 2003, Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania, Med Sci Monit, 9, CR142

Kaufman, 1987, Enzymology of the phenylalanine-hydroxylating system, Enzyme, 38, 286, 10.1159/000469218

Kayaalp, 1997, Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations, Am J Hum Genet, 61, 1309, 10.1086/301638

Konecki, 1992, Structural characterization of the 5′ regions of the human phenylalanine hydroxylase gene, Biochemistry, 31, 8363, 10.1021/bi00150a033

Kure, 1999, Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, J Pediatr, 135, 375, 10.1016/S0022-3476(99)70138-1

Leandro, 2006, Co-expression of different subunits of human phenylalanine hydroxylase: evidence of negative interallelic complementation, Biochim Biophys Acta, 1762, 544, 10.1016/j.bbadis.2006.02.001

Longo, 2009, Disorders of biopterin metabolism, J Inherit Metab Dis, 32, 333, 10.1007/s10545-009-1067-2

MacDonald A Blau N 2013 Treatment Blau N Burton BK Levy HL MacDonald A Thöny B van Spronsen F Phenylketonuria and BH4 deficiencies. Bremen London, Boston UNI-MED

MacDonald, 2010, The reality of dietary compliance in the management of phenylketonuria, J Inherit Metab Dis, 33, 665, 10.1007/s10545-010-9073-y

MacDonald, 2011, Nutrition in phenylketonuria, Mol Genet Metab, 104, S10, 10.1016/j.ymgme.2011.08.023

Mitchell, 2011, Phenylalanine hydroxylase deficiency, Genet Med, 13, 697, 10.1097/GIM.0b013e3182141b48

Muntau, 2014, Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators, J Inherit Metab Dis, 37, 505, 10.1007/s10545-014-9701-z

Muntau, 2002, Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria, N Engl J Med, 347, 2122, 10.1056/NEJMoa021654

Opladen, 2012, An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia, J Inherit Metab Dis, 35, 963, 10.1007/s10545-012-9506-x

Penrose, 1935, Inheritance of phenylpyruvic amentia (phenylketonuria), Lancet, 2, 192, 10.1016/S0140-6736(01)04897-8

Pey, 2003, Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH, Hum Mutat, 21, 370, 10.1002/humu.10198

Pey, 2004, Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations, Hum Mutat, 24, 388, 10.1002/humu.20097

Polak, 2013, Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness, Gene, 526, 347, 10.1016/j.gene.2013.05.057

Ponzone, 1988, Two mutations of dihydropteridine reductase deficiency, Arch Dis Child, 63, 154, 10.1136/adc.63.2.154

Ponzone, 1991, Tetrahydrobiopterin loading test in hyperphenylalaninemia, Pediatr Res, 30, 435, 10.1203/00006450-199111000-00008

Porta, 2009, Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency, Neurology, 73, 633, 10.1212/WNL.0b013e3181b38983

Ratnam, 1989, Anti-idiotypic antibodies elicited by pterin recognize active site epitopes in dihydrofolate reductases and dihydropteridine reductase, Arch Biochem Biophys, 275, 344, 10.1016/0003-9861(89)90381-0

Reblova, 2013, Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations, Clin Chim Acta, 419, 1, 10.1016/j.cca.2013.01.006

Rossi, 2014, Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pah mice, J Control Release, 194, 37, 10.1016/j.jconrel.2014.08.012

Santos-Sierra, 2012, Novel pharmacological chaperones that correct phenylketonuria in mice, Hum Mol Genet, 21, 1877, 10.1093/hmg/dds001

Scriver, 2007, The PAH gene, phenylketonuria, and a paradigm shift, Hum Mutat, 28, 831, 10.1002/humu.20526

Scriver, 2003, PAHdb 2003: what a locus-specific knowledgebase can do, Hum Mutat, 21, 333, 10.1002/humu.10200

Scriver, 2000, PAHdb: a locus-specific knowledgebase, Hum Mutat, 15, 99, 10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P

Shen, 2016, Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotypephenotype correlation, Mol Genet Metab, 10.1016/j.ymgme.2016.01.004

Shintaku, 2008, Diagnosis of tetrahydrobiopterin (BH4) responsive mild phenylketonuria in Japan over the past 10 years, Ann Acad Med Singapore, 37, 77

Smith, 1975, New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction, Lancet, 1, 1108, 10.1016/S0140-6736(75)92498-8

Smooker, 1999, A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online, Hum Mutat, 13, 503, 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU13>3.0.CO;2-F

Staudigl, 2011, The interplay between genotype, metabolic state, and cofactor treatment governs phenylalanine hydroxylase function and drug response, Hum Mol Genet, 20, 2628, 10.1093/hmg/ddr165

Strisciuglio, 2014, New strategies for the treatment of phenylketonuria (PKU), Metabolites, 4, 1007, 10.3390/metabo4041007

Tao, 2015, Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria, Pediatr Res, 78, 691, 10.1038/pr.2015.167

Thöny, 2006, Mutations in the BH4-metabolizing genes GTP cyclohydroalse I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase genes, Hum Mutat, 27, 870, 10.1002/humu.20366

Trefz, 1993, Genotype-phenotype correlations in phenylketonuria, Clin Chim Acta, 217, 15, 10.1016/0009-8981(93)90233-T

Trefz, 2009, Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study, J Pediatr, 154, 700, 10.1016/j.jpeds.2008.11.040

Trujillano, 2014, Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing, Eur J Hum Genet, 22, 528, 10.1038/ejhg.2013.175

Trunzo, 2015, Phenylalanine hydroxylase deficiency in South Italy: genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH responsiveness, Clin Chim Acta, 450, 51, 10.1016/j.cca.2015.07.014

Underhaug, 2013, Phenylalanine hydroxylase misfolding and pharmacological chaperones, Curr Top Med Chem, 12, 2534, 10.2174/1568026611212220008

Viecelli, 2014, Treatment of phenylketonuria using minicircle-based naked-DNA gene transfer to murine liver, Hepatology, 60, 1035, 10.1002/hep.27104

Waters, 1998, In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function, Hum Mutat, 11, 4, 10.1002/(SICI)1098-1004(1998)11:1<4::AID-HUMU2>3.0.CO;2-L

Werner, 2011, Tetrahydrobiopterin: biochemistry and pathophysiology, Biochem J, 438, 397, 10.1042/BJ20110293

Wettstein, 2015, Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria, Eur J Hum Genet, 23, 302, 10.1038/ejhg.2014.114

Woo, 1983, Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria, Nature, 306, 151, 10.1038/306151a0

Ye, 2013, Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study, J Inherit Metab Dis, 36, 893, 10.1007/s10545-012-9550-6

Yew, 2013, Erythrocytes encapsulated with phenylalanine hydroxylase exhibit improved pharmacokinetics and lowered plasma phenylalanine levels in normal mice, Mol Genet Metab, 109, 339, 10.1016/j.ymgme.2013.05.011

Zhang, 2016, Identification of the allosteric site for phenylalanine in rat phenylalanine hydroxylase, J Biol Chem, 10.1074/jbc.M115.709998

Zhang, 2015, The amino acid specificity for activation of phenylalanine hydroxylase matches the specificity for stabilization of regulatory domain dimers, Biochemistry, 54, 5167, 10.1021/acs.biochem.5b00616

Zurflüh, 2008, Molecular genetics of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency, Hum Mutat, 29, 167, 10.1002/humu.20637