Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia

Gene

Volumn 568, Issue 1, 2015, Pages 61-68

  Konkolova J ^a   Petrovic R ^a   Chandoga, J ^a   Repisky M ^a   Zelinkova H ^a   Krsiakova J ^b   Kolnikova M ^c   Kantarska D ^d   Sutovsky S ^a   Bohmer D ^a  

^a UNIVERSITY HOSPITAL BRATISLAVA   (Slovakia)

^b M Genetik SRO   (Slovakia)

^c Detska fakultna nemocnica s poliklinikou   (Slovakia)

^d Department of Medical Genetics University Hospital FD Roosvelta   (Slovakia)

Author keywords

D bifunctional protein deficiency; HSD17B4 gene; Peroxisomal oxidation of very long chain fatty acids

Indexed keywords

FOLINIC ACID; PEROXISOMAL BIFUNCTIONAL ENZYME; PHYTANIC ACID; PIPECOLIC ACID; PLASMALOGEN; PYRIDOXINE; VALPROIC ACID; VERY LONG CHAIN FATTY ACID; VIGABATRIN; HSD17B4 PROTEIN, HUMAN; PEROXISOMAL MULTIFUNCTIONAL PROTEIN 2;

ANTICONVULSANT THERAPY; ARTICLE; CAMPTODACTYLY; CASE REPORT; CLONIC SEIZURE; COMA; CONGENITAL HIP DISLOCATION; CONVULSION; CRYPTORCHISM; DISORDERS OF PEROXISOMAL FUNCTIONS; FACE DYSMORPHIA; FATTY ACID BLOOD LEVEL; FATTY ACID OXIDATION; FEMALE; GENE; GENE MUTATION; HEPATOMEGALY; HETEROZYGOTE; HICCUP; HIGH ARCHED PALATE; HSD17B4 GENE; HUMAN; INFANT; LOW SET EAR; MALE; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PEROXISOMAL D BIFUNCTIONAL PROTEIN DEFICIENCY; PNEUMONIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REFLEX DISORDER; RESPIRATORY FAILURE; SLOVAKIA; TACHYCARDIA; BRAIN DISEASES, METABOLIC; DEFICIENCY; ENZYMOLOGY; GENETICS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEROXISOME;

BASE SEQUENCE; BRAIN DISEASES, METABOLIC; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PEROXISOMAL MULTIFUNCTIONAL PROTEIN-2; PEROXISOMES; SLOVAKIA;

EID: 84930869084     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2015.05.020     Document Type: Article

References (25)

1. Adamski J., Jakob F.J. A guide to 17beta-hydroxysteroid dehydrogenases. Mol. Cell. Endocrinol. 2001, 171(1-2):1-4.
2. Adamski J., et al. The membrane-bound 17beta-estradiol dehydrogenase of porcine endometrial cells: purification, characterization and subcellular localization. J. Steroid Biochem. Mol. Biol. 1992, 43(8):1089-1093.
3. Dacremont G., Vincent G. Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts. J. Inherit. Metab. Dis. 1995, 18(Suppl. 1):84-89.
4. de Launoit Y., Adamski J. Unique multifunctional HSD17B4 gene product: 17beta-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase/hydratase involved in Zellweger syndrome. J. Mol. Endocrinol. 1999, 22(3):227-240.
5. Dieuaide-Noubhani M., et al. Further characterization of the peroxisomal 3-hydroxyacyl-CoA dehydrogenases from rat liver. Relationship between the different dehydrogenases and evidence that fatty acids and the C27 bile acids di- and tri-hydroxycoprostanic acids are metabolized by separate multifunctional proteins. Eur. J. Biochem. 1996, 240(3):660-666.
6. Ferdinandusse S., et al. Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Am. J. Hum. Genet. 2006, 78(1):112-124.
7. Ferdinandusse S., et al. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann. Neurol. 2006, 59(1):92-104.
8. Haapalainen A.M., et al. Crystal structure of the liganded SCP-2-like domain of human peroxisomal multifunctional enzyme type 2 at 1.75 A resolution. J. Mol. Biol. 2001, 313(5):1127-1138.
9. Haapalainen A.M., et al. Binary structure of the two-domain (3R)-hydroxyacyl-CoA dehydrogenase from rat peroxisomal multifunctional enzyme type 2 at 2.38 A resolution. Structure 2003, 11(1):87-97.
10. Koski M.K., et al. A two-domain structure of one subunit explains unique features of eukaryotic hydratase 2. J. Biol. Chem. 2004, 279(23):24666-24672.
11. Koski K.M., et al. Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2. J. Mol. Biol. 2005, 345(5):1157-1169.
12. Lepage G., Roy C.C. Direct transesterification of all classes of lipids in a one-step reaction. J. Lipid Res. 1986, 27(1):114-120.
13. Markus M., et al. The organelles containing porcine 17 beta-estradiol dehydrogenase are peroxisomes. Eur. J. Cell Biol. 1995, 68(3):263-267.
14. McKie J.H., Douglas K.T. Evidence for gene duplication forming similar binding folds for NAD(P)H and FAD in pyridine nucleotide-dependent flavoenzymes. FEBS Lett. 1991, 279(1):5-8.
15. McMillan H.J., et al. Specific combination of compound heterozygous mutations in 17beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet J. Rare Dis. 2012, 7:90.
16. Moller G., et al. Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV. J. Steroid Biochem. Mol. Biol. 1999, 69(1-6):441-446.
17. Moller G., et al. Molecular basis of D-bifunctional protein deficiency. Mol. Cell. Endocrinol. 2001, 171(1-2):61-70.
18. Novikov D., et al. The human peroxisomal multifunctional protein involved in bile acid synthesis: activity measurement, deficiency in Zellweger syndrome and chromosome mapping. Biochim. Biophys. Acta 1997, 1360(3):229-240.
19. Paton B.C., Pollard A.N. Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group. Cell Biochem. Biophys. 2000, 32:247-251. (Spring).
20. Paton B.C., et al. Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency. Prenat. Diagn. 2002, 22(1):38-41.
21. Rossmann M.G., Moras D., Olsen K.W. Chemical and biological evolution of nucleotide-binding protein. Nature 1974, 250(463):194-199.
22. Suzuki Y., et al. Biochemical and immunocytochemical properties of peroxisomes and mitochondria in bovine chromaffin cells. Cell Struct. Funct. 1997, 22(6):615-619.
23. van Grunsven E.G., et al. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc. Natl. Acad. Sci. U. S. A. 1998, 95(5):2128-2133.
24. van Grunsven E.G., et al. Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. Am. J. Hum. Genet. 1999, 64(1):99-107.
25. Wanders R.J.A., B.P., Heymans H.S.A. Single peroxisomal enzyme deficiencies. The Molecular and Metabolic Bases of Inherited Disease 2001, 3219-3256. Mc-Graw-Hill, New York. B.A., C.R. Scriver, W.S. Sly, D. Valle (Eds.).