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Title: Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia
Authors: Phannee Sawangareetrakul
James R. Ketudat Cairns
Nithiwat Vatanavicharn
Somporn Liammongkolkul
Pornswan Wasant
Jisnuson Svasti
Voraratt Champattanachai
Chulabhorn Research Institute
Suranaree University of Technology
Mahidol University
Chulabhorn Graduate Institute
Keywords: Agricultural and Biological Sciences;Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Dec-2015
Citation: Biochemical Genetics. Vol.53, No.11-12 (2015), 310-318
Abstract: © 2015, Springer Science+Business Media New York. 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 mut0and 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 mut0defective 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 mut0and cbl defective subgroups.
ISSN: 15734927
Appears in Collections:Scopus 2011-2015

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