Mitochondrial Copy Number and D-Loop Variants in Pompe Patients
Objective: Pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. Over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of neuromuscular diseases. We therefore aimed to compare...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Royan Institute (ACECR), Tehran
2016-09-01
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| Series: | Cell Journal |
| Subjects: | |
| Online Access: | http://celljournal.org/web/journal/article/6122/download |
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| author | Fatemeh Bahreini Massoud Houshmand Mohammad Hossein Modaresi Hassan Tonekaboni Shahriar Nafissi Ferdoss Nazarisi Seyed Mohammad Akrami |
| author_facet | Fatemeh Bahreini Massoud Houshmand Mohammad Hossein Modaresi Hassan Tonekaboni Shahriar Nafissi Ferdoss Nazarisi Seyed Mohammad Akrami |
| author_sort | Fatemeh Bahreini |
| collection | DOAJ |
| description | Objective: Pompe disease is a rare neuromuscular genetic disorder and is classified
into two forms of early and late-onset. Over the past two decades, mitochondrial abnormalities
have been recognized as an important contributor to an array of neuromuscular
diseases. We therefore aimed to compare mitochondrial copy number and mitochondrial
displacement-loop sequence variation in infantile and adult Pompe patients.
Materials and Methods: In this retrospective study, the mitochondrial D-loop sequence
was analyzed by polymerase chain reaction (PCR) and direct sequencing to detect possible
variation in 28 Pompe patients (17 infants and 11 adults). Results were compared
with 100 healthy controls and sequences of all individuals were compared with the Cambridge
reference sequence. Real-time PCR was used to quantify mitochondrial DNA copy
number.
Results: Among 59 variants identified, 37(62.71%) were present in the infant group,
14(23.333%) in the adult group and 8(13.333%) in both groups. Mitochondrial copy
number in infant patients was lower than adults (P<0.05). A significant frequency difference
was seen between the two groups for 12 single nucleotide polymorphism (SNP).
A novel insertion (317-318 ins CCC) was observed in patients and six SNPs were identified
as neutral variants in controls. There was an inverse association between mitochondrial
copy number and D-loop variant number (r=0.54).
Conclusion: The 317-318 ins CCC was detected as a new mitochondrial variant in
Pompe patients. |
| first_indexed | 2024-12-21T10:38:16Z |
| format | Article |
| id | doaj.art-c47761aab8894267adcdfafc676587ed |
| institution | Directory Open Access Journal |
| issn | 2228-5806 2228-5814 |
| language | English |
| last_indexed | 2024-12-21T10:38:16Z |
| publishDate | 2016-09-01 |
| publisher | Royan Institute (ACECR), Tehran |
| record_format | Article |
| series | Cell Journal |
| spelling | doaj.art-c47761aab8894267adcdfafc676587ed2022-12-21T19:07:00ZengRoyan Institute (ACECR), TehranCell Journal2228-58062228-58142016-09-01183405415Mitochondrial Copy Number and D-Loop Variants in Pompe PatientsFatemeh Bahreini0Massoud Houshmand1Mohammad Hossein Modaresi2Hassan Tonekaboni3Shahriar Nafissi4Ferdoss Nazarisi5Seyed Mohammad Akrami6Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IranDepartment of Medical Genetic, National Institute of Genetic Engineering and Biotechnology, Tehran, IranDepartment of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IranDepartment of Pediatric Neurology, Shahid Beheshti University of Medical Sciences, Tehran, IranIranian Center for Neurological Research, Tehran University of Medical Sciences, Tehran, IranIranian Center for Neurological Research, Tehran University of Medical Sciences, Tehran, IranDepartment of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IranObjective: Pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. Over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of neuromuscular diseases. We therefore aimed to compare mitochondrial copy number and mitochondrial displacement-loop sequence variation in infantile and adult Pompe patients. Materials and Methods: In this retrospective study, the mitochondrial D-loop sequence was analyzed by polymerase chain reaction (PCR) and direct sequencing to detect possible variation in 28 Pompe patients (17 infants and 11 adults). Results were compared with 100 healthy controls and sequences of all individuals were compared with the Cambridge reference sequence. Real-time PCR was used to quantify mitochondrial DNA copy number. Results: Among 59 variants identified, 37(62.71%) were present in the infant group, 14(23.333%) in the adult group and 8(13.333%) in both groups. Mitochondrial copy number in infant patients was lower than adults (P<0.05). A significant frequency difference was seen between the two groups for 12 single nucleotide polymorphism (SNP). A novel insertion (317-318 ins CCC) was observed in patients and six SNPs were identified as neutral variants in controls. There was an inverse association between mitochondrial copy number and D-loop variant number (r=0.54). Conclusion: The 317-318 ins CCC was detected as a new mitochondrial variant in Pompe patients.http://celljournal.org/web/journal/article/6122/downloadPompeMitochondrial DNAD-LoopCopy Number |
| spellingShingle | Fatemeh Bahreini Massoud Houshmand Mohammad Hossein Modaresi Hassan Tonekaboni Shahriar Nafissi Ferdoss Nazarisi Seyed Mohammad Akrami Mitochondrial Copy Number and D-Loop Variants in Pompe Patients Cell Journal Pompe Mitochondrial DNA D-Loop Copy Number |
| title | Mitochondrial Copy Number and D-Loop Variants in Pompe Patients |
| title_full | Mitochondrial Copy Number and D-Loop Variants in Pompe Patients |
| title_fullStr | Mitochondrial Copy Number and D-Loop Variants in Pompe Patients |
| title_full_unstemmed | Mitochondrial Copy Number and D-Loop Variants in Pompe Patients |
| title_short | Mitochondrial Copy Number and D-Loop Variants in Pompe Patients |
| title_sort | mitochondrial copy number and d loop variants in pompe patients |
| topic | Pompe Mitochondrial DNA D-Loop Copy Number |
| url | http://celljournal.org/web/journal/article/6122/download |
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