Cornille Karen, Milea Dan, Amati-Bonneau Patrizia, Procaccio Vincent, Zazoun Lydie, Guillet Virginie, El Achouri Ghizlane, Delettre Cécile, Gueguen Naïg, Loiseau Dominique, Muller Agnès, Ferré Marc, Chevrollier Arnaud, Wallace Douglas C, Bonneau Dominique, Hamel Christian, Reynier Pascal, Lenaers Guy
Institut National de la Santé et de la Recherche Médicale U583, Institut des Neurosciences de Montpellier, Université de Montpellier I et II, Montpellier, France.
Ann Neurol. 2008 May;63(5):667-71. doi: 10.1002/ana.21376.
A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network, significant increased susceptibility to apoptosis, oxidative phosphorylation uncoupling, and altered OPA1 protein profile, supporting the pathogenicity of this mutation. These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation.
在一名患有双侧视神经病变并随后部分自发视力恢复的患者中，发现OPA1可变剪接外显子5b存在新的c.740G>A（R247H）突变。来自该患者及其未受影响父亲的R247H成纤维细胞呈现出异常的高度管状线粒体网络，对凋亡的易感性显著增加，氧化磷酸化解偶联，以及OPA1蛋白谱改变，支持了该突变的致病性。这些结果表明，OPA1相关视神经病变的临床谱可能比先前描述的更广，并且在携带外显子5b突变的病例中可能会出现自发恢复。
