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

Related Diseases:

Methylmalonic aciduria type mut
MUT

References:

1.

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

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2.

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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3.

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

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4.

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

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5.

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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6.

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

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7.

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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8.

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

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9.

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

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10.

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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11.

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

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12.

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

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13.

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

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14.

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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15.

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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16.

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

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17.

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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18.

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

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19.

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

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20.

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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21.

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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22.

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

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23.

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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24.

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

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25.

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

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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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33.

NCBI article

NCBI 4594 [^]
34.

OMIM.ORG article

Omim 609058 [^]
35.

Orphanet article

Orphanet ID 123583 [^]
36.

Wikipedia article

Wikipedia EN (Methylmalonyl-CoA_mutase) [^]
Update: April 29, 2019