MITOCHONDRIAL VARIANTS IN POMPE DISEASE: A COMPARISON BETWEEN CLASSIC AND NON-CLASSIC FORMS

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BAHREINI FATEMEH; HOUSHMAND MASSOUD; MODARRESSI MOHAMMAD HOSSEIN; AKRAMI SEYED MOHAMMAD

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Journal Paper

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Journal: Cell Journal (Yakhteh) Year:2018 | Volume:20 | Issue:3 Page(s): 333-339

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Title

MITOCHONDRIAL VARIANTS IN POMPE DISEASE: A COMPARISON BETWEEN CLASSIC AND NON-CLASSIC FORMS

Author(s)

BAHREINI FATEMEH | HOUSHMAND MASSOUD | MODARRESSI MOHAMMAD HOSSEIN | AKRAMI SEYED MOHAMMAD | Issue Writer Certificate

Keywords

ALPHA-GLUCOSIDASE

CYTOCHROME-C OXIDASE

MITOCHONDRIA

POMPE

Abstract

Objective: POMPE disease (PD) is a progressive neuromuscular disorder that is caused by glucosidase acid alpha (GAA) deleterious mutations. MITOCHONDRIAl involvement is an important contributor to neuromuscular diseases. In this study the sequence ofMT-ATP 6/8 and Cytochrome C oxidase I/II genes along with the expression levels of the former genes were compared in classic and non-classic patients.Materials and Methods: In this case-control study, the sequence of MT-ATP 6/8 and Cytochrome C oxidase was analyzed by polymerase chain reaction (PCR) -Sanger sequencing and expression ofMT-ATP genes were quantified by real time-PCR (RT-PCR) in 28 POMPE patients. The results were then compared with 100 controls. All sequences were compared with the revised Cambridge reference sequence as reference.Results: Screening of MT-ATP6/8 resulted in the identification of three novel variants, namely T9117A, A8456C and A8524C. There was a significant decrease inMT-ATP6 expression between classic (i.e. adult) and control groups (P=0.030). Additionally, theMT-ATP8 expression was significantly decreased in classic (P=0.004) and non-classic (i.e. infant) patients (P=0.013). In total, 22 variants were observed inCytochrome C oxidase, five of which were nonsynonymous, one leading to a stop codon and another (C9227G) being a novel heteroplasmic variant. The A8302G in the lysine tRNA gene was found in two brothers in a pedigree, while a T7572C variant in the aspartate tRNA gene was observed in two brothers in another pedigree.Conclusion: The extent of MITOCHONDRIAl involvement in the classic group was more significant than in the non-classic form. BesideGAA deleterious mutations, it seems that mtDNA variants have a secondary effect on PD. Understanding, the role of MITOCHONDRIA in the pathogenesis of POMPE may potentially be helpful in developing new therapeutic strategies.

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References

MITOCHONDRIAL TRANSFER RNA MUTATIONS AND MALE INFERTILITY

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APA: Copy

BAHREINI, FATEMEH, HOUSHMAND, MASSOUD, MODARRESSI, MOHAMMAD HOSSEIN, & AKRAMI, SEYED MOHAMMAD. (2018). MITOCHONDRIAL VARIANTS IN POMPE DISEASE: A COMPARISON BETWEEN CLASSIC AND NON-CLASSIC FORMS. CELL JOURNAL (YAKHTEH), 20(3), 333-339. SID. https://sid.ir/paper/708904/en

Vancouver: Copy

BAHREINI FATEMEH, HOUSHMAND MASSOUD, MODARRESSI MOHAMMAD HOSSEIN, AKRAMI SEYED MOHAMMAD. MITOCHONDRIAL VARIANTS IN POMPE DISEASE: A COMPARISON BETWEEN CLASSIC AND NON-CLASSIC FORMS. CELL JOURNAL (YAKHTEH)[Internet]. 2018;20(3):333-339. Available from: https://sid.ir/paper/708904/en

IEEE: Copy

FATEMEH BAHREINI, MASSOUD HOUSHMAND, MOHAMMAD HOSSEIN MODARRESSI, and SEYED MOHAMMAD AKRAMI, “MITOCHONDRIAL VARIANTS IN POMPE DISEASE: A COMPARISON BETWEEN CLASSIC AND NON-CLASSIC FORMS,” CELL JOURNAL (YAKHTEH), vol. 20, no. 3, pp. 333–339, 2018, [Online]. Available: https://sid.ir/paper/708904/en

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