Molecular Investigation of Leber’s Hereditary Optic Neuropathy Common Mutations in Suspected Patients

Molecular Investigation of Leber’s Hereditary Optic Neuropathy Common Mutations in Suspected Patients

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LHON is a mitochondrial neurodegenerative disorder often manifesting itself in the second or third decade of life, and hence resulting in progressive central vision loss usually in a short period of 2-8 weeks within which different degrees of blindness may occur. Etiologically, more than twenty miss...

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Main Authors: HR Soleimanpour, DD Farhud, SK Bidooki, L Andonian, M Togha, M Khanlari
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2004-08-01
Series:Iranian Journal of Public Health
Subjects:
LHON
G11778A
G3460A
T14484C
NADH
PCR-RFLP
Online Access:http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/133.pdf&manuscript_id=133
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spelling doaj-3067c5823f8041f4b50eb7d0f840dc7e2020-12-02T11:46:09ZengTehran University of Medical SciencesIranian Journal of Public Health2251-60852004-08-0133319Molecular Investigation of Leber’s Hereditary Optic Neuropathy Common Mutations in Suspected PatientsHR SoleimanpourDD FarhudSK BidookiL AndonianM ToghaM KhanlariLHON is a mitochondrial neurodegenerative disorder often manifesting itself in the second or third decade of life, and hence resulting in progressive central vision loss usually in a short period of 2-8 weeks within which different degrees of blindness may occur. Etiologically, more than twenty missense mutations have been reported for LHON, amongst which the three mutations of G11778A, G3460A and T14484C, affecting NADH dehydrogenase complex activity, are recognized as primary mutations. The three primary mutations account for 90% of LHON patients, emphasizing the importance of molecular investigation of these mutations for differential diagnosis of LHON. Using PCR-RFLP, this research resulted in the detection of two LHON families carrying the G11778A mutation in homoplasmy and described the clinical and molecular features of the disease in the patients.http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/133.pdf&manuscript_id=133LHONG11778AG3460AT14484CNADHPCR-RFLP
collection DOAJ
language English
format Article
sources DOAJ
author HR Soleimanpour
DD Farhud
SK Bidooki
L Andonian
M Togha
M Khanlari
spellingShingle HR Soleimanpour
DD Farhud
SK Bidooki
L Andonian
M Togha
M Khanlari
Molecular Investigation of Leber’s Hereditary Optic Neuropathy Common Mutations in Suspected Patients
Iranian Journal of Public Health
LHON
G11778A
G3460A
T14484C
NADH
PCR-RFLP
author_facet HR Soleimanpour
DD Farhud
SK Bidooki
L Andonian
M Togha
M Khanlari
author_sort HR Soleimanpour
title Molecular Investigation of Leber’s Hereditary Optic Neuropathy Common Mutations in Suspected Patients
title_short Molecular Investigation of Leber’s Hereditary Optic Neuropathy Common Mutations in Suspected Patients
title_full Molecular Investigation of Leber’s Hereditary Optic Neuropathy Common Mutations in Suspected Patients
title_fullStr Molecular Investigation of Leber’s Hereditary Optic Neuropathy Common Mutations in Suspected Patients
title_full_unstemmed Molecular Investigation of Leber’s Hereditary Optic Neuropathy Common Mutations in Suspected Patients
title_sort molecular investigation of leber’s hereditary optic neuropathy common mutations in suspected patients
publisher Tehran University of Medical Sciences
series Iranian Journal of Public Health
issn 2251-6085
publishDate 2004-08-01
description LHON is a mitochondrial neurodegenerative disorder often manifesting itself in the second or third decade of life, and hence resulting in progressive central vision loss usually in a short period of 2-8 weeks within which different degrees of blindness may occur. Etiologically, more than twenty missense mutations have been reported for LHON, amongst which the three mutations of G11778A, G3460A and T14484C, affecting NADH dehydrogenase complex activity, are recognized as primary mutations. The three primary mutations account for 90% of LHON patients, emphasizing the importance of molecular investigation of these mutations for differential diagnosis of LHON. Using PCR-RFLP, this research resulted in the detection of two LHON families carrying the G11778A mutation in homoplasmy and described the clinical and molecular features of the disease in the patients.
topic LHON
G11778A
G3460A
T14484C
NADH
PCR-RFLP
url http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/133.pdf&manuscript_id=133
work_keys_str_mv AT hrsoleimanpour molecularinvestigationoflebershereditaryopticneuropathycommonmutationsinsuspectedpatients
AT ddfarhud molecularinvestigationoflebershereditaryopticneuropathycommonmutationsinsuspectedpatients
AT skbidooki molecularinvestigationoflebershereditaryopticneuropathycommonmutationsinsuspectedpatients
AT landonian molecularinvestigationoflebershereditaryopticneuropathycommonmutationsinsuspectedpatients
AT mtogha molecularinvestigationoflebershereditaryopticneuropathycommonmutationsinsuspectedpatients
AT mkhanlari molecularinvestigationoflebershereditaryopticneuropathycommonmutationsinsuspectedpatients
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