Novel Mutations in the OPA1 Gene and Associated Clinical Features in Japanese Patients with Optic Atrophy

Nakamura, Makoto; Lin, Jian; Ueno, Shinji; Asaoka, Ryo; Hirai, Tatsuya; Hotta, Yoshihiro; Miyake, Yoichi; Terasaki, Hiroko

doi:10.1016/j.ophtha.2005.10.054

Cited by 20 publications

(14 citation statements)

References 30 publications

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“…Although we did not analyze the haplotypes around this mutation in family 1, the fact that the same mutation was identified in our Japanese family, a long distance from Europe and of a different race would also suggest that the c.2708_2711delTTAG is a mutation hotspot and not an ancient mutation [9,24].…”

Section: Discussionmentioning

confidence: 87%

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OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

et al. 2011

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Section: Discussionmentioning

confidence: 87%

“…The heterozygous frameshift mutation c.2708_2711 delTTAG is one common mutation in the OPA1 gene [24].…”

Section: Discussionmentioning

confidence: 99%

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

et al. 2011

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“…To date, approximately 100 different mutations in the gene have been identified in 190 families, 12,13,[17][18][19][20][21][22][23][24][25][26][27] and we have also found OPA1 gene mutations in 11 of 16 Japanese probands with typical clinical characteristics of ADOA. 26 The OPA1 gene is expressed in all tissues examined, but most strongly in the retina and brain. 13 The OPA1 protein is located in the mitochondria 28 and is considered to be involved in the division and fusion processes of mitochondria.…”

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confidence: 86%

“…Detailed information about the mutation and clinical features of the eight patients have been presented elsewhere. 26 A fundus photograph of a representative patient (247:III-3) is shown in Figure 1A. Ten refraction-and age-matched normal individuals were analyzed as control subjects (16 eyes in 10 control subjects-4 men and 6 women-average age, 44.8 years).…”

Section: Patientsmentioning

confidence: 99%

Reduction of Inner Retinal Thickness in Patients with Autosomal Dominant Optic Atrophy Associated withOPA1Mutations

Ito¹,

Nakamura²,

Yamakoshi³

et al. 2007

Invest. Ophthalmol. Vis. Sci.

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PURPOSE.To determine the morphologic changes in the retina in the macula and around the optic disc in patients with autosomal dominant optic atrophy (ADOA) associated with a mutation in the OPA1 gene. METHODS. Cross-sectional images of the macular area of the retina were obtained by optical coherence tomography (OCT) in patients with ADOA who had a heterozygous mutation in the OPA1 gene. There were 15 eyes of eight patients from five families: four men and four women. The average age of the patients was 48.1 years. In the OCT images, the cross sections of the sensory retina were divided manually into four areas. The thickness of the overall sensory retina and the divided areas were measured at 1 and 2 mm on the temporal, nasal, superior, and inferior sides of the fovea as well as at the fovea. The thickness of the retinal nerve fiber layer (RNFL) around the optic discs was measured by taking circular scans (3.4 mm in diameter) centered on the optic disc. The results in the patients with ADOA were compared with those from 11 normal control subjects. RESULTS. The overall thickness of the sensory retina in the macular area was significantly thinner in the patients with ADOA than in the control subjects at all points except the fovea (P Ͻ 0.0001). The RNFL in the macular area in the patients with ADOA was significantly thinner than that in control subjects at all points (P Ͻ 0.0001), especially at 1 mm from the fovea. The circumpapillary RNFL was significantly thinner at the temporal, superior, and inferior areas in patients with ADOA but not in the nasal area. The total cross-sectional area of the circumpapillary RNFL was significantly correlated with visual acuity. The thickness of the combined ganglion cell layer, inner plexiform layer, inner nuclear layer, and outer plexiform layer in the macular area was significantly thinner in the patients (P Ͻ 0.0056). The thickness of the outer nuclear layer and the photoreceptor inner segments and the thickness of the photoreceptor outer segments were not significantly different between the patients with ADOA and normal control subjects. CONCLUSIONS. The RNFL and the layer including the ganglion cell layer are significantly thinner in patients with ADOA associated with an OPA1 gene mutation, whereas the photoreceptor layers are not affected morphologically. The inner retina is the main area of the retina altered in ADOA. (Invest Ophthalmol Vis Sci. 2007;48:4079 -4086)

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“…Drp-1 can be ubiquitinylated by MARCH-V (or MITOL), an E3-ubiquitin ligase residing on the MOM (Karbowski et al, 2007;Nakamura et al, 2006a;Yonashiro et al, 2006). However, whether MARCH-V induces mitochondrial fusion or fission is not clearly established yet because MARCH-V also interacts and regulates Mfn-2 and Fis-1 (Nakamura et al, 2006b;Yonashiro et al, 2006).…”

Section: Mitochondrial Fissionmentioning

confidence: 99%

Mitochondrial outer-membrane permeabilization and remodelling in apoptosis

Jourdain

Martinou

2009

The International Journal of Biochemistry & Cell Biology

108

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a b s t r a c tMany human pathologies are associated with defects in mitochondria such as diabetes, neurodegenerative diseases or cancer. This tiny organelle is involved in a plethora of processes in mammalian cells, including energy production, lipid metabolism and cell death. In the so-called intrinsic apoptotic pathway, the outer mitochondrial membrane (MOM) is premeabilized by the pro-apoptotic Bcl-2 members Bax and Bak, allowing the release of apoptogenic factors such as cytochrome c from the inter-membrane space into the cytosol. At the same time, mitochondria fragment in response to Drp-1 activation suggesting that mitochondrial fission could play a role in mitochondrial outer-membrane permeabilization (MOMP). In this review, we will discuss the link that could exist between mitochondrial fission and fusion machinery, Bcl-2 family members and MOMP.

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Novel Mutations in the OPA1 Gene and Associated Clinical Features in Japanese Patients with Optic Atrophy

Cited by 20 publications

References 30 publications

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

Reduction of Inner Retinal Thickness in Patients with Autosomal Dominant Optic Atrophy Associated withOPA1Mutations

Mitochondrial outer-membrane permeabilization and remodelling in apoptosis

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