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Information Journal Paper

Title

Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency

Pages

  22-27

Keywords

Mitochondrial Trifunctional Protein (MTP) 

Abstract

 INTRODUCTION: Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of eight parts (subunits): four α-subunits containing LCEH (long-chain 2, 3-enoyl-CoA hydratase) and LCHAD (long-chain 3-hydroxyacyl CoA dehydrogenase) activity, and four β-subunits that possess LCKT (long-chain 3-ketoacyl-CoA thiolase) activity which catalyzes three out of four steps in β-oxidation spiral of long-chain fatty acid. Its deficiency is an autosomal recessive disorder that causes a clinical spectrum of diseases. MATERIALS AND METHODS: A blood spot was collected from the patient’ s original newborn screening card with parental informed consent. A newborn screening test and quantity plasma acylcarnitine profile analysis by MS/MS were performed. After isolation of DNA and Amplification of all exons of the HADHA and HADHB, directly Sequence analyses of all exons and the flanking introns both of genes were performed. RESULTS: Here, we report a novel mutation in a patient with MTP defi ciency diagnosed with newborn screening test and quantity plasma acylcarnitine profile analysis by MS/MS and then confirmed by enzyme analysis in cultured fibroblasts and direct sequencing of the HADHA and HADHB genes. Molecular analysis of causative genes showed a missense mutation (p. Q385P) c. 1154A > C in exon 14 of HADHB gene. CONCLUSIONS: Since this mutation was not found in 50 normal control cases; so it was concluded that c. 1154A > C mutation was a causative mutation. Phenotype analysis of this mutation predicted pathogenesis which reduces the stability of the MTP protein complex.

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    APA: Copy

    Shahrokhi, Mahdiyeh, SHAFIEI, MOHAMMAD, GALEHDARI, HAMID, & SHARIATI, GHOLAMREZA. (2017). Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency. ARCHIVES OF IRANIAN MEDICINE, 20(1), 22-27. SID. https://sid.ir/paper/281689/en

    Vancouver: Copy

    Shahrokhi Mahdiyeh, SHAFIEI MOHAMMAD, GALEHDARI HAMID, SHARIATI GHOLAMREZA. Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2017;20(1):22-27. Available from: https://sid.ir/paper/281689/en

    IEEE: Copy

    Mahdiyeh Shahrokhi, MOHAMMAD SHAFIEI, HAMID GALEHDARI, and GHOLAMREZA SHARIATI, “Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency,” ARCHIVES OF IRANIAN MEDICINE, vol. 20, no. 1, pp. 22–27, 2017, [Online]. Available: https://sid.ir/paper/281689/en

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