نتایج جستجو برای: t14484c

تعداد نتایج: 24  

2016
Sung-Hee Kim Ji-Soo Kim

Dear Editor, Leber’s hereditary optic neuropathy (LHON) is an inherited disorder that causes visual loss predominantly in young men. More than 90% of LHON cases are due to one of the following three primary mitochondrial DNA point mutations: G3460A, G11778A, and T14484C.1 While the T14484C mutation is known to show milder pathogenicity and a better outcome than the other mutations,2 here we rep...

Journal: :genetics in the 3rd millennium 0
هاجر آریان hajar aryan national institute for genetic engineering and biotechnology, tehran, iran مهری عابدی mehri abedi عبدالرضا طبسی abdolreza tabasi حسین سنجری hossein sanjari امید آریانی omid aryani مسعود هوشمند masoud houshmand

we studied 74 patients with lebers hereditary optic neuropathy (lhon) to investigate causative mtdna mutations (g3460a, g11778a, t14484c, g4459a) in iranian lhon patients. fifty two patients carried the mitochondrial dna (mtdna) g11778a mutation, while one had the t14484c mutation 4 patients had the g3460a mutation and one had the g14459a mutation. our results showed a similarity in the pattern...

Journal: :iranian journal of public health 0
hr soleimanpour dd farhud sk bidooki l andonian m togha m khanlari

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 ...

2011
Marcela Scabello Amaral-Fernandes Ana Maria Marcondes Paulo Maurício do Amor Divino Miranda Andréa Trevas Maciel-Guerra Edi Lúcia Sartorato

PURPOSE There are many similarities in the clinical presentation of Leber hereditary optic neuropathy (LHON) and in patients who have optic neuropathy and a history of heavy tobacco and alcohol consumption. The main objective of this study is to investigate the frequency of primary and secondary mitochondrial DNA (mtDNA) mutations for LHON in patients diagnosed as having alcohol and tobacco opt...

Journal: :Biotechnology & Biotechnological Equipment 2023

Leber’s hereditary optic neuropathy (LHON) is a rare maternally inherited disease caused by mutations in mitochondrial DNA (mtDNA) genes encoding subunits of complex I the respiratory chain. The most common causing LHON are G11778A, G3460A and T14484C, but there also several less mutations. presents as acute or subacute bilateral visual loss, usually affecting young males. aim this study was to...

2016
Paulo Maurício do Amôr Divino Miranda Sueli Matilde da Silva-Costa Juliane Cristina Balieiro Marcela Scabello Amaral Fernandes Rogério Marins Alves Andrea Trevas Maciel Guerra Ana Maria Marcondes Edi Lúcia Sartorato

PURPOSE Leber hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral vision loss. More than 95% of LHON cases are associated with one of the three main mtDNA mutations: G11778A, T14484C, and G3460A. The other 5% of cases are due to other rare mutations related to the disease. The aim of this study was to identify the prevalence and spectrum of LHON mtDNA mutati...

2016
Siobhan Eustace Ryan Fergus Ryan Veronica O’Dwyer Derek Neylan

PURPOSE Approximately 95% of patients who are diagnosed with Leber's hereditary optic neuropathy (LHON) have one of three mitochondrial point mutations responsible for the disease, G3460A, G11778A, and T14484C. The purpose of this study was to develop a novel multiplex real-time amplification-refractory mutation system (ARMS) PCR combined with high-resolution melt curves to identify the individ...

Journal: :Collegium antropologicum 2006
Irena Martin-Kleiner Jelka Gabrilovac Mario Bradvica Tomislav Vidović Branimir Cerovski Ksenija Fumić Milivoj Boranić

Leber's hereditary optic neuroretinopathy (LHON) is manifested as a bilateral acute or subacute loss of central vision due to optic atrophy. It is linked to point mutations of mitochondrial DNA, which is inherited maternally. The most common mitochondrial DNA point mutations associated with LHON are G3460A, G11778A and T14484C. These mutations are linked with the defects of subunits of the comp...

2016
Ling Wang Yan-Shuang Ren Ke Fan Yan-Qiu Zhang Qin Tian Da-Peng Shi

Puspose: We report a case of a 17-year-old man who developed right auditory dysfunction, one month after the onset of visual loss caused by Leber’s hereditary optic neuropathy (LHON). Methods: A full examination including a blood Mitochondrial DNA examination, auditory assessment and cranial magnetic resonance imaging were performed during the acute stage of the Leber’s hereditary optic neuropa...

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