prikaz prve stranice dokumenta Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families
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Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families
Collegium Antropologicum, 30 (2006), 1; 171-174. urn:nbn:hr:105:409054
Martin-Kleiner, Irena; Gabrilovac, Jelka; Bradvica, Mario; Vidović, Tomislav; Cerovski, Branimir; Fumić, Ksenija; Boranić, Milivoj

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Martin Kleiner, I., Gabrilovac, J., Bradvica, M., Vidović, T., Cerovski, B., Fumić, K. i Boranić, M. (2006). Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families. Collegium Antropologicum, 30. (1), 171-174. Preuzeto s https://urn.nsk.hr/urn:nbn:hr:105:409054

Martin Kleiner, Irena, et al. "Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families." Collegium Antropologicum, vol. 30, br. 1, 2006, str. 171-174. https://urn.nsk.hr/urn:nbn:hr:105:409054

Martin Kleiner, Irena, Jelka Gabrilovac, Mario Bradvica, Tomislav Vidović, Branimir Cerovski, Ksenija Fumić i Milivoj Boranić. "Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families." Collegium Antropologicum 30, br. 1 (2006): 171-174. https://urn.nsk.hr/urn:nbn:hr:105:409054

Martin Kleiner, I., et al. (2006) 'Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families', Collegium Antropologicum, 30(1), str. 171-174. Preuzeto s: https://urn.nsk.hr/urn:nbn:hr:105:409054 (Datum pristupa: 03.05.2024.)

Martin Kleiner I, Gabrilovac J, Bradvica M, Vidović T, Cerovski B, Fumić K, i sur.. Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families. Collegium Antropologicum [Internet]. 03.2006. [pristupljeno 03.05.2024.];30(1):171-174. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:409054

I. Martin Kleiner, et al., "Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families", Collegium Antropologicum, vol. 30, br. 1, str. 171-174, Ožujak 2006. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:409054. [Citirano: 03.05.2024.]

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Naslov (engleski)Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families
AutorIrena Martin-Kleiner
AutorJelka Gabrilovac
AutorMario Bradvica
AutorTomislav Vidović
AutorBranimir Cerovski
AutorKsenija Fumić
AutorMilivoj Boranić
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
Background: LHON is LEBER's hereditary optic neuroretinopathy with bilateral acute or subacute loss of central vision due to optic atrophy. It is linked to point mutations of mitochondrial DNA. Mitochondrial DNA (mtDNA) is a small circular molecule of 16,5 kB, which encodes the enzymes of the respiratory chain in mitochondria. It is inherited maternally. The most common pathogenic mtDNK point mutations associated with LHON are 3460 G→A, 11778 G→A and 14484 T→C. These mutations are linked with the defects of subunits of complex I (NADH-dehydrogenase-ubiquinone reductase) in mitochondria. The 11778 G→A point mutation has the worst optic outcome (blindness). - - - - - Methods: Complete ophthalmologic examination including best corrected visual acuity on the both eyes according to Snellen chart, ophthalmoscopy, Goldmann perimetry and colour vision with Ishichara plates were done. mtDNA point mutation 11778 G→A was detected in DNA of peripheral blood lymphocytes using PCR and RFLP method. - - - - - Results: This is the first study of Croatian patients with LHON defect associated with mtDNK mutations. Two LHON 11778 G→A families are presented in this paper. The mothers and female relatives are LHON mutants without symtoms, while the sons mutants suffered from blindness. - - - - - Conclusions: Molecular diagnosis may help in explanation of the cause of LHON disease. LHON should not be based solely on clinical description.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeZavršna verzija rukopisa prihvaćena za objavljivanje (postprint)
Naslov časopisaCollegium Antropologicum
Brojčani podacivol. 30, br. 1, str. 171-174
p-ISSN0350-6134
URN:NBNurn:nbn:hr:105:409054
Datum objave publikacije2006-03
URL dokumentahttps://hrcak.srce.hr/8908
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2024-03-27 19:54:43