Molecular genetic study on maple syrup urine disease in Philippines

2003 Fiscal Year Final Research Report Summary

• Project/Area Number: 14406023
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 海外学術
• Research Field: Pediatrics
• Research Institution: Kobe University
• Principal Investigator: TAKESHIMA Yasuhiro Kobe University, Graduate School of Medicine, Associate Professor, 大学院・医学系研究科, 助教授 (40281141)
• Co-Investigator(Kenkyū-buntansha): NISHIO Hisahide Kobe University, Graduate School of Medicine, Professor, 大学院・医学研究科, 教授 (80189258) ; NISHIYAMA Kaoru Kobe University, School of Medicine, Professor, 医学部, 教授 (00150061) ; MATSUO Masafumi Kobe University, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (10157266) ; SHRAKAWA Taku Kobe University, School of Medicine, Associate Professor, 医学部, 助教授 (30171044) ; OHASHI Tanaki Kobe University, Hospital, Lecturer, 医学部附属病院, 講師 (60362779)
• Project Period (FY): 2002 – 2003
• Keywords: MSUD / mRNA / gene mutation / neonatal screeing / Philippines

Research Abstract

Many cases of maple syrup urine disease (MSUD) have been identified in the Philippines. To enhance early diagnosis of MSUD, applicability of neonatal screening of MSUD was examined in Metro Manila.
Within this year 6 new MSUD patients were identified by finding abnormal smell in the very sick neonates. These patients were treated well and are developing well under the nutritional treatment.
In our previous study one unique mutation of the E2 gene is identified and found as a founder mutation among Philippino. Therefore, this mutation was analyzed in these 6 new cases. PCR application of the region spreading from exon 9 to 10 showed no shortened product. This indicates that these 6 patients had no deletion mutations. Then every exon of the E2 gene is now under sequence examination.
Our results indicate that one mutation is not common among Philippines but several types of mutation be presert.

Research Products

• [Publications] Catherine Lynn T.Silao: "A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease"Mol Genet Metab. 81. 100-104 (2004)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Catherine Lynn T.Silao, Carmencita D.Padilla, Matsuo M.: "A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease"Mol Genet Metab. 81. 100-104 (2004)
  • Description: 「研究成果報告書概要(欧文)」より