Mitochondrial Diseases: Mitochondrial Disease, Leber's Hereditary Optic Neuropathy, Kearns-Sayre Syndrome

Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Pages: 100. Not illustrated. Chapters: Mitochondrial Disease, Leber's Hereditary Optic Neuropathy, Kearns-Sayre Syndrome, List of Icd-9 Codes 240-279: Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders, Non-Mendelian Inheritance, Friedreich's Ataxia, Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes, Nonsyndromic Deafness, Wolfram Syndrome, Leigh's Disease, Pyruvate Carboxylase Deficiency, Merrf Syndrome, Pyruvate Dehydrogenase Deficiency, Neuropathy, Ataxia, and Retinitis Pigmentosa, Progressive External Ophthalmoplegia, Mitochondrial Myopathy, Pearson Syndrome, Diabetes Mellitus and Deafness, Threshold Expression. Excerpt: Lebers hereditary optic neuropathy (LHON) or Leber optic atrophy is a mitochondrially inherited (mother to all offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; this affects predominantly young adult males. However, LHON is only transmitted through the mother as it is primarily due to mutations in the mitochondrial (not nuclear) genome and only the egg contributes mitochondria to the embryo. LHON is usually due to one of three pathogenic mitochondrial DNA (mtDNA) point mutations. These mutations are at nucleotide positions 11778 G to A, 3460 G to A and 14484 T to C, respectively in the ND4, ND1 and ND6 subunit genes of complex I of the oxidative phosphorylation chain in mitochondria. Men cannot pass on the disease to their offspring. Clinically, there is an acute onset of visual loss, first in one eye, and then a few weeks to months later in the other. Onset is usually young adulthood, but age range at onset from 8-60 is reported. This typically evolves to very severe optic atrophy and permanent decrease of visual acuity. In the acute stage, lasting a few weeks, the affected eye demonstrates ...