Martin-Kleiner, Irena and Gabrilovac, Jelka and Bradvica, Mario and Vidović, Tomislav and Cerovski, Branimir and Fumić, Ksenija and Boranić, Milivoj
Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families.
Collegium antropologicum, 30 (1).
ISSN 0350-6134 (Print)
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.
||DNA, Mitochondrial - genetics ; Optic Atrophy, Hereditary, Leber - genetics ; Point Mutation - genetics ; Adult ; Child ; Croatia ; Family ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Molecular Biology ; Pedigree
||Katedra za oftalmologiju
||28 Dec 2007
||23 Sep 2011 16:09
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