SLC25A13 gene mutations in Taiwanese patients with non-viralhepatocellular carcinoma

Molecular Genetics and Metabolism

Volumn 103, Issue 3, 2011, Pages 293-296

  Chang, Kuei Wen ^a   Chen, Huey Ling ^b   Chien, Yin Hsiu ^b   Chen, Tse Ching ^a   Yeh, Chau Ting ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Adult onset type II citrullinemia; Hepatocellular carcinoma; SLC25A13 mutation

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; GENOMIC DNA; SLC 25 A 13 PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CANCER GRADING; CANCER SURGERY; CANCER TISSUE; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; GENE FREQUENCY; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIVER; LIVER CELL CARCINOMA; MALE; PRIORITY JOURNAL; TAIWAN;

ADULT; AGED; CARCINOMA, HEPATOCELLULAR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LIVER NEOPLASMS; MALE; MIDDLE AGED; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; TAIWAN;

EID: 79958034892     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.03.013     Document Type: Article

References (22)

1. Saheki T., Kobayashi K., Iijima M., Moriyama M., Yazaki M., Takei Y., Ikeda S. Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. Hepatol. Res. 2005, 33:181-184.
2. Kobayashi K., Sinasac D.S., Iijima M., Boright A.P., Begum L., Lee J.R., Yasuda T., Ikeda S., Hirano R., Terazono H., Crackower M.A., Kondo I., Tsui L.C., Scherer S.W., Saheki T. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat. Genet. 1999, 22:159-163.
3. Saheki T., Kobayashi K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J. Hum. Genet. 2002, 47:333-341.
4. Tabata A., Sheng J.S., Ushikai M., Song Y.Z., Gao H.Z., Lu Y.B., Okumura F., Iijima M., Mutoh K., Kishida S., Saheki T., Kobayashi K. Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. J. Hum. Genet. 2008, 53:534-545.
5. Kobayashi K., Bang Lu Y., Xian Li M., Nishi I., Hsiao K.J., Choeh K., Yang Y., Hwu W.L., Reichardt J.K., Palmieri F., Okano Y., Saheki T. Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations. Mol. Genet. Metab. 2003, 80:356-359.
6. Hutchin T., Preece M.A., Kobayashi K., Saheki T., Brown R., Kelly D.A., McKiernan P.J., Green A., Baumann U. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in a European patient. J. Inherit. Metab. Dis. 2006, 29(Suppl. 1):112.
7. Yeh J.N., Jeng Y.M., Chen H.L., Ni Y.H., Hwu W.L., Chang M.H. Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. J. Pediatr. 2006, 148:642-646.
8. Kim S.Z., Jeon Y.M., Song W.J., Ushikai M., Saheki T., Kobayashi K. Two cases of citrin deficiency detected by newborn screening in Korea. J. Inherit. Metab. Dis. 2006, 29:84.
9. Dimmock D., Maranda B., Dionisi-Vici C., Wang J., Kleppe S., Fiermonte G., Bai R., Hainline B., Hamosh A., O'Brien W.E., Scaglia F., Wong L.J. Citrin deficiency, a perplexing global disorder. Mol. Genet. Metab. 2009, 96:44-49.
10. Lu Y.B., Kobayashi K., Ushikai M., Tabata A., Iijima M., Li M.X., Lei L., Kawabe K., Taura S., Yang Y., Liu T.T., Chiang S.H., Hsiao K.J., Lau Y.L., Tsui L.C., Lee D.H., Saheki T. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. J. Hum. Genet. 2005, 50:338-346.
11. Saheki T., Kobayashi K., Iijima M., Horiuchi M., Begum L., Jalil M.A., Li M.X., Lu Y.B., Ushikai M., Tabata A., Moriyama M., Hsiao K.J., Yang Y. Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol. Genet. Metab. 2004, 81(Suppl 1):S20-S26.
12. Tsai C.W., Yang C.C., Chen H.L., Hwu W.L., Wu M.Z., Liu K.L., Wu M.S. Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma. J. Formos. Med. Assoc. 2006, 105:852-856.
13. Hagiwara N., Sekijima Y., Takei Y., Ikeda S., Kawasaki S., Kobayashi K., Saheki T. Hepatocellular carcinoma in a case of adult-onset type II citrullinemia. Intern. Med. 2003, 42:978-982.
14. Ito T., Shiraki K., Sekoguchi K., Yamanaka T., Sugimoto K., Takase K., Tameda Y., Nakano T. Hepatocellular carcinoma associated with adult-type citrullinemia. Dig. Dis. Sci. 2000, 45:2203-2206.
15. Soeda J., Yazaki M., Nakata T., Miwa S., Ikeda S., Hosoda W., Iijima M., Kobayashi K., Saheki T., Kojiro M., Miyagawa S. Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency: a case report. J. Clin. Gastroenterol. 2008, 42:855-860.
16. Yeh C.T., Kuo C.J., Lai M.W., Chen T.C., Lin C.Y., Yeh T.S., Lee W.C. CD133-positive hepatocellular carcinoma in an area endemic for hepatitis B virus infection. BMC Cancer 2009, 9:324.
17. Yamaguchi N., Kobayashi K., Yasuda T., Nishi I., Iijima M., Nakagawa M., Osame M., Kondo I., Saheki T. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Hum. Mutat. 2002, 19:122-130.
18. Lin J.T., Hsiao K.J., Chen C.Y., Wu C.C., Lin S.J., Chou Y.Y., Shiesh S.C. High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. Clin. Chim. Acta 2011, 412:460-465.
19. Nakayama M., Okamoto Y., Morita T., Matsumoto M., Fukui H., Nakano H., Tsujii T. Promoting effect of citrulline in hepatocarcinogenesis: possible mechanism in hypercitrullinemia. Hepatology 1990, 11:819-823.
20. Sinasac D.S., Moriyama M., Jalil M.A., Begum L., Li M.X., Iijima M., Horiuchi M., Robinson B.H., Kobayashi K., Saheki T., Tsui L.C. Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. Mol. Cell. Biol. 2004, 24:527-536.
21. Lencioni R., Caramella D., Bartolozzi C., Di Coscio G. Long-term follow-up study of adenomatous hyperplasia in liver cirrhosis. Ital. J. Gastroenterol. 1994, 26:163-168.
22. Feitelson M.A., Sun B., Satiroglu Tufan N.L., Liu J., Pan J., Lian Z. Genetic mechanisms of hepatocarcinogenesis. Oncogene 2002, 21:2593-2604.