A family with 3460G&gt;A and 11778G&gt;A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients

Tońska, Katarzyna; Kurzawa, M.; Ambroziak, Anna M.; Korwin-Rujna, Magdalena; Szaflik, Jacek P.; Grabowska, Ewa; Szaflik, Jerzy; Bartnik, Ewa

doi:10.1016/j.mito.2008.08.002

Cited by 19 publications

(15 citation statements)

References 16 publications

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“…The first one was a three-generation Polish family and all affected individuals were male who presented the typical LHON symptoms. 32 In contrast to the Polish family, the patients in the current study showed early onset age and high penetrance in the female individuals. As we only sequenced less than 2500 base pairs (bp) of mtDNA and not the entire mtDNA, the frequency for this kind of mutation is likely underestimated.…”

Section: Discussioncontrasting

confidence: 88%

Mutation Screening of Mitochondrial DNA as Well as OPA1 and OPA3 in a Chinese Cohort With Suspected Hereditary Optic Atrophy

Chen¹,

Xu²,

Zhang³

et al. 2014

Investigative Ophthalmology & Visual Science

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Section: Discussioncontrasting

confidence: 88%

Mutation Screening of Mitochondrial DNA as Well as OPA1 and OPA3 in a Chinese Cohort With Suspected Hereditary Optic Atrophy

Chen¹,

Xu²,

Zhang³

et al. 2014

Investigative Ophthalmology & Visual Science

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“…The patients' mother (II-1) and their sister (III-5) showed normal visual acuity and had no signs of degeneration of the optic nerve. All three men were smokers (Tońska et al, 2008).…”

Section: Methodsmentioning

confidence: 97%

Analysis of BNIP3 and BNIP3L/Nix expression in cybrid cell lines harboring two LHON-associated mutations.

et al. 2019

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Mitochondria are key players in cell death through the activation of the intrinsic apoptosis pathway. BNIP3 and BNIP3L/Nix are outer mitochondrial membrane bifunctional proteins which because of containing both BH3 and LIR domains play a role in cellular response to stress by regulation of apoptosis and selective autophagy. Leber’s Hereditary Optic Neuropathy (LHON) is the most common mitochondrial disease in adults, characterized by painless loss of vision caused by atrophy of the optic nerve. The disease in over 90% of cases is caused by one of three mutations in the mitochondrial genome: 11778G>A, 3460G>A or 14484T>C. The pathogenic processes leading to optic nerve degeneration are largely unknown, however, the most common explanation is that mtDNA mutations increase the apoptosis level in this tissue. Here we present the results of analysis of BNIP3 and BNIP3L/Nix proteins in cells harboring a combination of the 11778G>A and the 3460G>A LHON mutations. Experiments performed on cybrids revealed that BNIP3 protein level is decreased in LHON cells compared to controls. CCCP treatment resulted in apoptosis induction only in control cells. Moreover, we also noticed reduced level of autophagy in LHON cybrids. The presented results suggest that in cells carrying LHON mutations expression of proteins involved in regulation of apoptosis and autophagy is decreased what in turn may disturb cell death pathways in those cells and affect cellular response to stress.

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“…Heteroplasmy of the m.3635G>A mutation was determined using last cycle hot PCR-RFLP with α-32P-dATP 5. The region spanning this mutation was PCR-amplified using primers: forward, 3608–3633 (C/T mismatch at position 3632), reverse 4239–4219 in standard PCR conditions.…”

Section: Methodsmentioning

confidence: 99%

m.3635G>A mutation as a cause of Leber hereditary optic neuropathy

et al. 2014

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Over 90% of Leber's hereditary optic neuropathy (LHON) is caused by one of three mtDNA mutations (m.11778A>G, m.3460G>A, m.14484T>C). The remaining cases are due to rare mutations in different genes encoding subunits of the respiratory chain. The proband is a 17-year-old male with symptoms of optic nerve atrophy. No common LHON mutations were found, but detailed sequencing identified a rare, homoplasmic mutation m.3635G>A in the ND1 gene.

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A family with 3460G>A and 11778G>A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients

Cited by 19 publications

References 16 publications

Mutation Screening of Mitochondrial DNA as Well as OPA1 and OPA3 in a Chinese Cohort With Suspected Hereditary Optic Atrophy

Mutation Screening of Mitochondrial DNA as Well as OPA1 and OPA3 in a Chinese Cohort With Suspected Hereditary Optic Atrophy

Analysis of BNIP3 and BNIP3L/Nix expression in cybrid cell lines harboring two LHON-associated mutations.

m.3635G>A mutation as a cause of Leber hereditary optic neuropathy

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