LEBERS OPTIC ATROPHY
\lˈɛbəz ˈɒptɪk ˈatɹəfi], \lˈɛbəz ˈɒptɪk ˈatɹəfi], \l_ˈɛ_b_ə_z ˈɒ_p_t_ɪ_k ˈa_t_ɹ_ə_f_i]\
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A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
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Word of the day
Platidiam
- An inorganic water-soluble platinum complex. After undergoing hydrolysis, it reacts DNA produce both intra interstrand crosslinks. These crosslinks appear to impair replication and transcription of DNA. The cytotoxicity cisplatin correlates with cellular arrest in G2 phase cell cycle.