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Haploinsufficiency is the cause of dominant optic atrophy. (ECHO).(Brief Article)
Evidence from one family has, at last, pinpointed the cause of dominant optic atrophy (DOA) as an insufficiency in the OPA 1 gene. Previously, whether the disease arose through abnormal functioning of altered proteins or insufficiency was just speculation.
One Australian family with DOA was studied in which no OPA 1 gene mutation had been identified. The ocular signs in the family members were typical of DOA of varying severity. The researchers genotyped the chromosomal DNA from as many of the family as possible with 12 microsatellite markers surrounding the OPA 1 gene and found that three flanking the gene were present as single alleles. After ruling out other causes …
