สืบค้นงานวิจัย
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia
Sawangareetrakul P. - ไม่ระบุหน่วยงาน
ชื่อเรื่อง (EN): Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia
ผู้แต่ง / หัวหน้าโครงการ (EN): Sawangareetrakul P.
บทคัดย่อ (EN): Isolated methylmalonic acidemia (MMA) is an autosomal recessive, inherited disorder that results from either a mut defect of the methylmalonyl-CoA mutase apoenzyme (MCM, the product of the MUT gene) or a cbl defect in the synthesis of its cofactor, adenosylcobalamin (AdoCbl). In this study, biochemical and mutational analyses of three patients clinically diagnosed with MMA were performed. No MCM activity was detected in leukocyte extracts of two patients, while high MCM activity was found in the other, suggesting mut 0 and cbl defects, respectively. A novel (c.IVS6 -3 to -8delCTTTTT, p.K444_L445insFC*) and two known mutations in the MUT gene and one novel (c.227_36delGACCCAAAGA, p.R76Mfs*14) mutation in the MMAB gene were identified. In addition, MCM immunoblot analysis of leukocyte extract samples of these three patients and eight patients previously reported by our group, as well as their parents, showed a good correlation between the MCM protein and activity levels. Patients with mut 0 defective subtypes lacked MCM activity and had no MCM band, while patients carrying the cbl defects had high MCM activity levels and an intense MCM band at about 83 kDa, in comparison to those in their parents. These data expand the mutation spectrum of MMA deficiency. In addition, the examination of MCM protein level may be used as an alternative technique to determine the mut 0 and cbl defective subgroups. © 2015, Springer Science+Business Media New York.
บทคัดย่อ: ไม่พบข้อมูลจากหน่วยงานต้นทาง
ภาษา (EN): en
เอกสารแนบ (EN): https://www.scopus.com/inward/record.uri?eid=2-s2.0-84947047544&doi=10.1007%2fs10528-015-9694-9&partnerID=40&md5=95b6938935a4f42e293471c9676c3bcc
เผยแพร่โดย (EN): มหาวิทยาลัยมหิดล
คำสำคัญ (EN): Mutation
เจ้าของลิขสิทธิ์ (EN): มหาวิทยาลัยมหิดล
หากไม่พบเอกสารฉบับเต็ม (Full Text) โปรดติดต่อหน่วยงานเจ้าของข้อมูล

การอ้างอิง

Sawangareetrakul P.. "Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia". ไม่ระบุหน่วยงาน. ม.ป.ป.

Sawangareetrakul P.. "Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia". ไม่ระบุหน่วยงาน. ม.ป.ป.. Print.



TARR Wordcloud:
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia
Sawangareetrakul P.
มหาวิทยาลัยมหิดล
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