title: [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].
abstract: BACKGROUND
  Methylmalonic acidemia (MMA) is a genetically determined human metabolic disease, characterized by deficient activity of the mitochondrial enzyme, methylmalonyl CoA mutase (MCM). This enzyme catalyzes the isomerization of L-methylmalonyl CoA to succinyl CoA and requires adenosylcobalamin as cofactor. Several mutations have been identified in the unique genetic locus encoding the MCM apoenzyme (mut) which causes MMA.
  
  
  OBJECTIVE
  To identify the mutations present in Mexican patients diagnosed with MMA.
  
  
  RESULTS
  Complete nucleotide sequencing of mut gene exons of 10 Mexican patients with methylmalonic acidemia (MMA) identified one novel mutation and eight mutations previously reported in the methylmalonyl-CoA mutase (mut) gene. The new mutation c.406G > T (p.V136F) was found in one patient combined with the deletion c.1891delG (p.A631QfsX17). The missense mutation c.322C > T (p.R108C) was found in six non-related patients; in addition, the mutations c.ins671-678dupAATTTATG (p.V227NfsX16), c.682C > T (p.R228X), c1022-1023dupA (p. N341KfsX20), c.1846C > T (p.R616C), c.2080C > T (p.R694W), and c.385+3insTAAGGGT (splice) were found. This work reveals that Mexican patients with MMA have new (p.V136F) as well as worldwide and hispanic reported mutations. The mutation R108C is the most frequent change (40% of total alleles) mainly in patients from León, Guanajuato.
authors.affiliation: Departamento de Biología Molecular y Biotecnologia, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México.
authors.forename: Sara Teresa
authors.initials: ST
authors.lastname: Méndez
authors.forename: Marcela
authors.initials: M
authors.lastname: Vela-Amieva
authors.forename: Antonio
authors.initials: A
authors.lastname: Velázquez-Arellano
authors.forename: Isabel
authors.initials: I
authors.lastname: Ibarra
authors.forename: María Elena
authors.initials: ME
authors.lastname: Flores
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics*; D008800:Mexico
chemical_list: D008765:Methylmalonyl-CoA Mutase