Progress in diagnosis and treatment of Leber’s hereditary optic neuropathy

被引:0
作者
Qingyue Ma
Ying Sun
Ke Lei
Wenjuan Luo
机构
[1] The Affiliated Hospital of Qingdao University,Department of Ophthalmology
[2] The Affiliated Qingdao Central Hospital of Qingdao University,Center of Tumor Immunology and Cytotherapy, Medical Research Center
[3] The Second Affiliated Hospital of Medical College of Qingdao University,undefined
[4] The Affiliated Hospital of Qingdao University,undefined
来源
Journal of Molecular Medicine | 2024年 / 102卷
关键词
Leber’s hereditary optic neuropathy; mtDNA; Diagnosis; Treatment; Progress;
D O I
暂无
中图分类号
学科分类号
摘要
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial genetic disease with central vision loss as the main symptom. It is one of the diseases that cause vision loss and optic atrophy in young and middle-aged people. The mutations of these three primary mitochondrial mutations, m.11778G>A, m.14484T>C, and m.3460G>A, are the main molecular basis, but their pathogenesis is also affected by nuclear genes, mitochondrial genetic background, and environmental factors. This article summarizes the research progress on molecular pathogenesis, clinical symptoms, and treatment of LHON in recent years, aiming to summarize the genetic pathogenesis and clinical treatment points of LHON.
引用
收藏
页码:1 / 10
页数:9
相关论文
共 84 条
  • [1] Goldberg I(1992)Ophthalmology clinics of North America Am J Ophthalmol 113 730-731
  • [2] Kellar-Wood H(1994)Leber’s hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis Ann Neurol 36 109-386
  • [3] Balsa E(2012)NDUFA4 is a subunit of complex IV of the mammalian electron transport chain Cell Metab 16 378-49
  • [4] Zickermann V(2015)Mechanistic insight from the crystal structure of mitochondrial complex I Science 347 44-410
  • [5] Wirth C(2016)Atomic structure of the entire mammalian mitochondrial complex I Nature 538 406-1141
  • [6] Nasiri H(2012)Monogenic mitochondrial disorders N Engl J Med 366 1132-34
  • [7] Siegmund K(2013)The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases Neurobiol Dis 51 27-114
  • [8] Schwalbe H(2011)Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies Prog Retin Eye Res 30 81-337
  • [9] Hunte C(1995)The clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation Brain 118 319-354
  • [10] Brandt U(1973)Ocular fundus in acute Leber optic neuropathy Arch Ophthalmol 90 349-132