Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial methylmalonyl-CoA mutase

The MUT gene encodes a mitochondrial enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Methylmalonic aciduria type mut
MUT

References:

1.

Crane AM et. al. (1992) Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.

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2.

Crane AM et. al. (1992) Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.

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3.

Raff ML et. al. (1991) Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.

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4.

Ledley FD et. al. (1990) Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.

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5.

Ledley FD et. al. (1990) Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.

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6.

Sertić J et. al. (1990) Mapping of the L-methylmalonyl-CoA mutase gene to mouse chromosome 17.

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7.

Threadgill DW et. al. (1990) Localization of the murine methylmalonyl CoA mutase (Mut) locus on chromosome 17 by in situ hybridization.

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8.

None (1990) Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.

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9.

Jansen R et. al. (1990) Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

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10.

Nham SU et. al. (1990) Structure of the human methylmalonyl-CoA mutase (MUT) locus.

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11.

Blanché H et. al. (1991) A centromere-based genetic map of the short arm of human chromosome 6.

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12.

Ledley FD et. al. (1988) Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.

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13.

Jansen R et. al. (1989) Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction.

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14.

Fenton WA et. al. (1987) Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.

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15.

Ledley FD et. al. (1988) Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.

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16.

Zoghbi HY et. al. (1988) Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.

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17.

Qureshi AA et. al. (1994) Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.

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18.

Crane AM et. al. (1994) Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.

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19.

Ogasawara M et. al. (1994) Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.

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20.

Drennan CL et. al. (1996) Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.

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21.

Ledley FD et. al. (1997) Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.

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22.

Janata J et. al. (1997) Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.

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23.

Adjalla CE et. al. (1998) Seven novel mutations in mut methylmalonic aciduria.

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24.

Berger I et. al. (2001) Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

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25.

Acquaviva C et. al. (2001) N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

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26.

Champattanachai V et. al. (2003) Novel mutations in a Thai patient with methylmalonic acidemia.

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27.

Acquaviva C et. al. (2005) Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

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28.

Martínez MA et. al. (2005) Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

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29.

Worgan LC et. al. (2006) Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

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30.

Cavicchi C et. al. (2006) Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

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31.

Takeshima Y et. al. (2006) Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy.

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32.

Rincón A et. al. (2007) Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

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Update: Sept. 26, 2018