title: A Turkish case with molybdenum cofactor deficiency.
abstract: Molybdenum cofactor deficiency (MIM 252150) is a rare progressive neurodegenerative disorder with about 100 cases reported worldwide. We have identified a male with molybdenum cofactor deficiency and analyzed the molybdenum cofactor synthesis (MOCS)1 gene, MOCS2 gene, MOCS3 gene and GEPH gene. We homozygously identified the CGA insertion after A666 of the MOCS1 gene which produces arginine insertion at codon 222 of MOCS1A. The parents, his brother and his sister who did not have any symptoms were heterozygous for the same mutation. This region was highly conserved in various species. The N-terminal part of MOCS1 a protein is suggested to form the central core of the protein and be composed of an incomplete [(alpha/beta)6] triosephosphate isomerase (TIM) barrel with a lateral opening that is covered by the C-terminal part of the protein. The insertion is located in the loop connecting the fifth beta strand to the sixth alpha helices of the TIM barrel structure. This arginine insertion would induce the conformation change and the lack of the activity.
authors.affiliation: Division of Kidney and Hypertension, Jikei University School of Medicine, Tokyo, Japan. ichida@jikei.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Ichida
authors.forename: H Ibrahim
authors.initials: HI
authors.lastname: Aydin
authors.forename: M
authors.initials: M
authors.lastname: Hosoyamada
authors.forename: H Serap
authors.initials: HS
authors.lastname: Kalkanoglu
authors.forename: A
authors.initials: A
authors.lastname: Dursun
authors.forename: I
authors.initials: I
authors.lastname: Ohno
authors.forename: T
authors.initials: T
authors.lastname: Coskun
authors.forename: A
authors.initials: A
authors.lastname: Tokatli
authors.forename: T
authors.initials: T
authors.lastname: Shibasaki
authors.forename: T
authors.initials: T
authors.lastname: Hosoya
mesh_terms: D001120:Arginine / Q000378:metabolism; D019755:Carbon-Carbon Lyases; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D003067:Coenzymes / Q000172:deficiency*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008667:Metalloproteins / Q000172:deficiency*; D000090006:Molybdenum Cofactors; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000175:diagnosis* / Q000235:genetics*; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics; D009713:Nucleotidyltransferases / Q000235:genetics; D017433:Protein Structure, Secondary; D011621:Pteridines; D017422:Sequence Analysis, DNA; D013466:Sulfurtransferases / Q000235:genetics
chemical_list: D001120:Arginine; D019755:Carbon-Carbon Lyases; D002352:Carrier Proteins; D003067:Coenzymes; D008565:Membrane Proteins; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D009687:Nuclear Proteins; D009713:Nucleotidyltransferases; D011621:Pteridines; D013466:Sulfurtransferases; C073441:gephyrin; C022261:molybdopterin; C502790:MOCS3 protein, human; C085585:molybdopterin synthase; C114840:MOCS1 protein, human