Mitochondrial Variants in Pompe Disease: A Comparison between Classic and Non-Classic Forms.

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 of MT-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 of MT-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 sequen

SUBMITTER: Bahreini F 

PROVIDER: S-EPMC6004991 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature