Leber’s Hereditary Optic Neuropathy

Sadun, Alfredo A.; Morgia, Chiara La; Carelli, Valerio

doi:10.1007/s11940-010-0100-y

Cited by 127 publications

(86 citation statements)

References 40 publications

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“…Over 95% of LHON cases are primarily the result of one of three mitochondrial DNA point mutations [7]. First in 1988 at the 1178/ND4, then in the following years the 14484/ND6 and 3460/ND1 mitochondrial DNA mutations were defined [2,3]. These three mutations involve genes encoding complex I subunits of the respiratory chain [2].…”

Section: Discussionmentioning

confidence: 99%

“…İn 5-10% of the cases different types of mutations were defined [4]. Central visual loss is the only symptom of the disease in majority of the LHON cases, but recently new cases are defined in which optic neuropathy is with different neurological symptoms like dystonia, parkinsonism, cerebellar ataxia and myoclonus [2][3][4]. These cases are called LHONplus.…”

Section: Discussionmentioning

confidence: 99%

“…It is characterized by bilateral subacute loss of central vision owing to focal degeneration of the retinal ganglion cell layer and optic nerve [2]. Recently new case reports of subacute visual failure and additional prominent neurological features like dystonia, myoclonic jerks, ataxia, multiple sclerosis like symptoms are described and defined as LHON-PLUS cases [3,4]. Here we present a case with subacute bilateral vision loss accompanied by different neurological examination and cranial magnetic resonance imagining (MRI) findings as a probable LHONplus case.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Leber's (Plus?) Hereditary Optic Neuropathy: A Case Report

Ca¹,

Cansu²,

Ufuk³

2017

Neonat Pediatr Med

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Leber's hereditary optic neuropathy (LHON)-plus is a maternally inherited genetic disorder of young males and characterized by severe progressive vision loss with other neurological and systemic symptoms. Here we present a young male with subacute progressive vision loss and Parkinsonism symptoms like right arm rigidity and endocrine abnormalities like hypoparathyroidism as a probable LHON-plus case.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Leber's (Plus?) Hereditary Optic Neuropathy: A Case Report

Ca¹,

Cansu²,

Ufuk³

2017

Neonat Pediatr Med

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“…4,5) The pharmacokinetic properties of idebenone have been investigated by HPLC. Several procedures have been developed to analyze idebenone in biological samples by HPLC coupled with UV, electrochemical, or mass spectrometry detection.…”

Section: 3)mentioning

confidence: 99%

Determination of Idebenone in Plasma by HPLC with Post-Column Fluorescence Derivatization Using 2-Cyanoacetamide

Nohara

Suzuki

Yamazaki

et al. 2012

CHEMICAL & PHARMACEUTICAL BULLETIN

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Idebenone is a benzoquinone analog that is used in the treatment of several neurological disorders including Friedreich's ataxia. It was found that the reaction of idebenone with 2-cyanoacetamide under alkaline conditions generates fluorescent products, and the reaction was considered to proceed via Craven's reaction. The reaction mixture from idebenone gave fluorescence with excitation and emission maximum wavelengths at 358 nm and 409 nm, respectively. It was adopted for HPLC with post-column fluorescence derivatization of idebenone. Idebenone in the plasma showed a linear response in the range of 0.5-32 ng (25-1600 ng/mL), and the quantitation limit (S/N 10) was 12.5 ng/mL. The detection limit (S/N 3) of the standard solution of idebenone was 0.1 ng. The HPLC system was applied to the human blood plasma obtained by finger prick. The plasma sample obtained by finger prick gave a similar chromatogram to that of venous blood obtained by venipuncture.Key words idebenone; finger prick; 2-cyanoacetamide; fluorescence derivatization; HPLC Idebenone is a synthetic analog of ubiquinone, 1) which is an essential component of the mitochondrial respiratory chain responsible for oxidative phosphorylation, and may prevent oxidative damage in the human body as an antioxidant. 2,3)Idebenone also has potent antioxidant activity and facilitates the flux of electrons along the mitochondrial electron transport chain, increasing the production of ATP, and has already been clinically investigated for the treatment of several neurological disorders, which include Friedreich's ataxia and Leber's hereditary optic neuropathy. 4,5) The pharmacokinetic properties of idebenone have been investigated by HPLC. Several procedures have been developed to analyze idebenone in biological samples by HPLC coupled with UV, electrochemical, or mass spectrometry detection. [6][7][8][9] HPLC methods employing mass spectrometry and electrochemical detectors have higher selectivity and sensitivity than those with a UV detector; however, these methods are not available in many laboratories because of a lack of specialized equipment. HPLC coupled with a fluorophotometric detector has been widely used in the determination of various substances in biological samples because of its high sensitivity and selectivity. However, idebenone needs fluorescence derivatization for the development of fluorimetric detection because it is not a fluorescent substance itself. 2-Cyanoacetamide has been used as a post-column derivatization reagent of fluorimetric HPLC for catecholamines, 3,4-dihydroxyphenylalanine, unsaturated disaccharides, and benzoquinones. [10][11][12][13][14][15] In the present study, 2-cyanoacetamide was tested for the fluorophotometric reagent of idebenone because idebenone is a benzoquinone compound. It was found that idebenone reacted with 2-cyanoacetamide under alkaline conditions with heating to form fluorescent products. This reaction was applied to HPLC with post-column fluorescence derivatization of idebenone.The salting out effect is useful a...

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“…В частности, обсуждается, что является более значимым в патогенезе НОНЛ: биоэнергетический дефект или хронический окислительный стресс или как комбинация обоих этих нарушений может играть роль в контексте выборочного поражения ГКС. Кажется правдоподобным, что эти меха-низмы ведут к изменению в мембранном потенциале ми-тохондрий, снижая порог для открытия МРТР, регулиру-ющих апоптоз [56].…”

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Molecular mechanisms and pathogenetic treatment of mitochondrial optic neuropathies

Nevinitsyna

Шеремет

2016

Vestn. oftal'mol.

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Leber’s Hereditary Optic Neuropathy

Cited by 127 publications

References 40 publications

Leber's (Plus?) Hereditary Optic Neuropathy: A Case Report

Leber's (Plus?) Hereditary Optic Neuropathy: A Case Report

Determination of Idebenone in Plasma by HPLC with Post-Column Fluorescence Derivatization Using 2-Cyanoacetamide

Molecular mechanisms and pathogenetic treatment of mitochondrial optic neuropathies

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