Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B12-responsive methylmalonic acidemia: Identification of a prevalent MMAA mutation

Molecular Genetics and Metabolism

Volumn 82, Issue 4, 2004, Pages 329-333

  Yang, Xue ^a   Sakamoto, Osamu ^a   Matsubara, Yoichi ^a   Kure, Shigeo ^a   Suzuki, Yoichi ^a   Aoki, Yoko ^a   Suzuki, Yasuyuki ^b   Sakura, Nobuo ^c   Takayanagi, Masaki ^d   Iinuma, Kazuie ^a   Ohura, Toshihiro ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

^d CHIBA CHILDREN'S HOSPITAL   (Japan)

Author keywords

Adenosylcobalamin; L methylmalonyl CoA mutase; MMAA; MMAB; Vitamin B12 responsive methylmalonic acidemia

Indexed keywords

CYANOCOBALAMIN; DNA; METHYLMALONIC ACID;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; GENE; GENETIC IDENTIFICATION; GENETIC STRAIN; HUMAN; METHYLMALONIC ACIDEMIA; MMAA GENE; MMAB GENE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL;

ACIDOSIS; ALKYL AND ARYL TRANSFERASES; AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; HUMANS; JAPAN; MEMBRANE TRANSPORT PROTEINS; METHYLMALONYL-COA MUTASE; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; SYNDROME; VITAMIN B 12;

EID: 4043063656     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.05.002     Document Type: Article

References (20)

1. Fenton W.A., Gravel R.A., Rosenblatt D.S. Disorders of propionate and methylmalonate metabolism. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. eighth ed.:2001;2165-2193 McGraw-Hill, New York
2. Rosenblatt D.S., Fenton W.A. Inherited disorders of folate and cobalamin transport and metabolism. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. eighth ed.:2001;3897-3933 McGraw-Hill, New York
3. 12 in fibroblasts from children with methylmalonicaciduria. Biochem. Biophys. Res. Commun. 44:1971;375-381
4. ′ -deoxyadenosylcobalamin synthesis Proc. Natl. Acad. Sci. USA. 72:1975;2799-2803
5. Gravel R.A., Mahoney M.J., Ruddle F.H., Rosenberg L.E. Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. Proc. Natl. Acad. Sci. USA. 72:1975;3181-3185
6. Fenton W.A., Rosenberg L.E. The defect in the cblB class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts. Biochem. Biophys. Res. Commun. 98:1981;283-289
7. Watanabe F., Saido H., Yamaji R., Miyatake K., Isegawa Y., Ito A., Yubisui T., Rosenblatt D.S., Nakano Y. Mitochondrial NADH- or NADPH-linked aquacobalamin reductase activity is low in human skin fibroblasts with defects in synthesis of cobalamin coenzymes. J. Nutr. 126:1996;2947-2951
8. 12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc. Natl. Acad. Sci. USA. 99:2002;15554-15559
9. 12-dependent methylmalonic aciduria. Hum. Mol. Genet. 11:2002;3361-3369
10. Kikuchi M., Hanamizu H., Narisawa K., Tada K. Assay of methylmalonyl CoA mutase with high-performance liquid chromatography. Clin. Chim. Acta. 184:1989;307-313
11. Willard H.F., Ambani L.M., Hart A.C., Mahoney M.J., Rosenberg L.E. Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate and cobalamin metabolism: a sensitive assay using cultured cells. Hum. Genet. 34:1976;277-283
12. Hirakawa M., Tanaka T., Hashimoto Y., Kuroda M., Takagi T., Nakamura Y. JSNP: a database of common gene variations in the Japanese population. Nucleic Acids Res. 30:2000;158-162
13. Ohura T., Narisawa K., Tada K. Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese β subunit-deficient patients. J. Inherit. Metab. Dis. 16:1993;863-867
14. Yang X., Sakamoto O., Matsubara Y., Kure S., Suzuki Y., Aoki Y., Yamaguchi S., Takahashi Y., Nishikubo T., Kawaguchi C., Yoshioka A., Kimura T., Hayasaka K., Kohno Y., Iinuma K., Ohura T. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. Mol. Genet. Metab. 81:2004;335-342
15. Kim S.N., Ryu K.H., Lee E.H., Kim J.S., Hahn S.H. Molecular analysis of PCCB gene in Korean patients with propionic acidemia. Mol. Genet. Metab. 77:2002;209-216
16. Okano Y., Hase Y., Lee D.H., Furuyama J., Shintaku H., Oura T., Isshiki G. Frequency and distribution of phenylketonuric mutations in Orientals. Hum. Mutat. 1:1992;216-220
17. Akanuma J., Nishigaki T., Fujii K., Matsubara Y., Inui K., Takahashi K., Kure S., Suzuki Y., Ohura T., Miyabayashi S., Ogawa E., Iinuma K., Okada S., Narisawa K. Molecular diagnosis of 51 Japanese patients with glycogen storage disease type Ia: characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblast. Am. J. Med. Genet. 91:2000;107-112
18. Wong L.J., Hwu W.L., Dai P., Chen T.J. Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan. Mol. Genet. Metab. 72:2001;175-180
19. Cooper B.A., Rosenblatt D.S., Watkins D. Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells. Am. J. Hematol. 34:1990;115-120
20. Watkins D., Matiaszuk N., Rosenblatt D.S. Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH). J. Med. Genet. 37:2000;510-513