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Title: Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)

Abstract

One of the commonest reasons for sudden-onset optic nerve degeneration in young men can be attributed to maternally inherited Leber hereditary optic neuroretinopathy (LHON) (Nikoskelainen et al. 1987). Specific point mutations at either np 11778 (Wallace et al. 1988) or np 3460 (Howell et al. 1991; Huoponen et al. 1991) in mitochondrial DNA (mtDNA) encoding for respiratory enzyme complex I subunits (i.e., ND4 or ND1) can be found in 70% of families. These mutations exist as being either homoplasmic or heteroplasmic, but the correlation between the degree of heteroplasmy and the risk of developing optic atrophy is far from clear (Holt et al. 1989; Vilkki et al. 1990). Neither does heteroplasmy explain the strong male bias seen in LHON families, when the sex ratio of patients with visual impairment is observed. Earlier results indicated that susceptibility to optic atrophy in Finnish families with LHON was probably determined by an X-chromosomal gene closely linked to DXS7. Contradictory results prompted reevaluation of the existence of an X-chromosomal visual loss susceptibility gene in Finnish LHON families. The results of this present study clearly demonstrate that the earlier close linkage to DXS7 is implausible. The altered Z is due to revised pedigrees, the usemore » of liability classes, and separation of the families according to the associated mtDNA mutation. 16 refs., 1 fig., 1 tab.« less

Authors:
; ; ; ;
Publication Date:
OSTI Identifier:
5914230
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics; (United States)
Additional Journal Information:
Journal Volume: 53:1; Journal ID: ISSN 0002-9297
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; EYES; HEREDITARY DISEASES; HUMAN X CHROMOSOME; GENETIC MAPPING; RETINA; ATROPHY; FINLAND; GENE MUTATIONS; MITOCHONDRIA; BODY; BODY AREAS; CELL CONSTITUENTS; CHROMOSOMES; DEVELOPED COUNTRIES; DISEASES; EUROPE; FACE; HEAD; HETEROCHROMOSOMES; HUMAN CHROMOSOMES; MAPPING; MUTATIONS; ORGANS; PATHOLOGICAL CHANGES; SCANDINAVIA; SENSE ORGANS; WESTERN EUROPE; X CHROMOSOME; 550400* - Genetics; 550900 - Pathology

Citation Formats

Juvonen, V, Aula, P, Vilkki, J, Nikoskelainen, E, and Savontaus, M -L. Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON). United States: N. p., 1993. Web.
Juvonen, V, Aula, P, Vilkki, J, Nikoskelainen, E, & Savontaus, M -L. Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON). United States.
Juvonen, V, Aula, P, Vilkki, J, Nikoskelainen, E, and Savontaus, M -L. 1993. "Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)". United States.
@article{osti_5914230,
title = {Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)},
author = {Juvonen, V and Aula, P and Vilkki, J and Nikoskelainen, E and Savontaus, M -L},
abstractNote = {One of the commonest reasons for sudden-onset optic nerve degeneration in young men can be attributed to maternally inherited Leber hereditary optic neuroretinopathy (LHON) (Nikoskelainen et al. 1987). Specific point mutations at either np 11778 (Wallace et al. 1988) or np 3460 (Howell et al. 1991; Huoponen et al. 1991) in mitochondrial DNA (mtDNA) encoding for respiratory enzyme complex I subunits (i.e., ND4 or ND1) can be found in 70% of families. These mutations exist as being either homoplasmic or heteroplasmic, but the correlation between the degree of heteroplasmy and the risk of developing optic atrophy is far from clear (Holt et al. 1989; Vilkki et al. 1990). Neither does heteroplasmy explain the strong male bias seen in LHON families, when the sex ratio of patients with visual impairment is observed. Earlier results indicated that susceptibility to optic atrophy in Finnish families with LHON was probably determined by an X-chromosomal gene closely linked to DXS7. Contradictory results prompted reevaluation of the existence of an X-chromosomal visual loss susceptibility gene in Finnish LHON families. The results of this present study clearly demonstrate that the earlier close linkage to DXS7 is implausible. The altered Z is due to revised pedigrees, the use of liability classes, and separation of the families according to the associated mtDNA mutation. 16 refs., 1 fig., 1 tab.},
doi = {},
url = {https://www.osti.gov/biblio/5914230}, journal = {American Journal of Human Genetics; (United States)},
issn = {0002-9297},
number = ,
volume = 53:1,
place = {United States},
year = {Thu Jul 01 00:00:00 EDT 1993},
month = {Thu Jul 01 00:00:00 EDT 1993}
}