Mitochondrial G8292A and C8794T mutations in patients with Niemann‑Pick disease type C Corrigendum in /10.3892/br.2018.1156

Maserrat,Shahin; Sharifpanah,Fatemeh; Akbari,Leila; Tonekaboni,Seyed  Hasan; Karimzadeh,Parvaneh; Asharafi,Mahmood Reza; Mazrouei,Safoura; Sauer,Heinrich; Houshmand,Massoud

doi:10.3892/br.2018.1095

Mitochondrial G8292A and C8794T mutations in patients with Niemann‑Pick disease type C

Corrigendum in: /10.3892/br.2018.1156

Authors:
- Shahin Maserrat
- Fatemeh Sharifpanah
- Leila Akbari
- Seyed Hasan Tonekaboni
- Parvaneh Karimzadeh
- Mahmood Reza Asharafi
- Safoura Mazrouei
- Heinrich Sauer
- Massoud Houshmand
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Affiliations: Department of Biology, Faculty of Science, Islamic Azad University, Damghan 3671639998, Iran, Department of Physiology, Faculty of Medicine, Justus Liebig University, D-35392 Giessen, Germany, Houshmand Genetic Diagnostics Laboratory, Taban Clinic, Tehran 1997844151, Iran, Department of Neurology, Faculty of Medicine, Shahid Beheshti University, Tehran 19839‑63113, Iran, Department of Neurology, Faculty of Medicine, Tehran University, Tehran 1417613151, Iran, Department of Cardiology, Clinic of Internal Medicine I, Friedrich Schiller University, D-07747 Jena, Germany, Department of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran 14965/161, Iran
Published online on: May 14, 2018 https://doi.org/10.3892/br.2018.1095
Pages: 65-73

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Abstract

Niemann‑Pick disease type C (NP‑C) is a neurovisceral lipid storage disorder. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system. NP‑C is transmitted in an autosomal recessive manner and is caused by mutations in either the NPC1 (95% of families) or NPC2 gene. The estimated disease incidence is 1 in 120,000 live births, but this likely represents an underestimate, as the disease may be under‑diagnosed due to its highly heterogeneous presentation. Variants of adenosine triphosphatase (ATPase) subunit 6 and ATPase subunit 8 (ATPase6/8) in mitochondrial DNA (mtDNA) have been reported in different types of genetic diseases including NP‑C. In the present study, the blood samples of 22 Iranian patients with NP‑C and 150 healthy subjects as a control group were analyzed. The DNA of the blood samples was extracted by the salting out method and analyzed for ATPase6/8 mutations using polymerase chain reaction sequencing. Sequence variations in mitochondrial genome samples were determined via the Mitomap database. Analysis of sequencing data confirmed the existence of 11 different single nucleotide polymorphisms (SNPs) in patients with NP‑C1. One of the most prevalent polymorphisms was the A8860G variant, which was observed in both affected and non‑affected groups and determined to have no significant association with NP‑C incidence. Amongst the 11 polymorphisms, only one was identified in the ATPase8 gene, while 9 including A8860G were observed in the ATPase6 gene. Furthermore, two SNPs, G8292A and C8792A, located in the non‑coding region of mtDNA and the ATPase6 gene, respectively, exhibited significantly higher prevalence rates in NP‑C1 patients compared with the control group (P<0.01). The present study suggests that there may be an association between mitochondrial ATPase6/8 mutations and the incidence of NP‑C disease. In addition, the mitochondrial SNPs identified maybe pathogenic mutations involved in the development and prevalence of NP‑C. Furthermore, these results suggest a higher occurrence of mutations in ATPase6 than in ATPase8 in NP‑C patients.

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