The presence of mitochondrial DNA mutations, including eight of those frequently associated with @entity3054 ( @entity3054 ), was investigated by sequencing and restriction endonuclease analysis in randomly selected @entity1 with @entity15 . Class I @entity3054 mutations with primary pathogenic significance for @entity1939 were not detected in any of the @entity15 @entity1 studied. A trend was observed for higher frequency of class II @entity3054 mutations with unknown pathogenic significance in the @entity15 @entity1 than in the controls. Specifically, the mutation at position 4216 and its associated simultaneous mutations occurred with a higher frequency. Eleven of the 53 @entity1 (20.8%) were positive for at least two (4216 and 4917 or 13,708) or three (4216, 13,708, 15,257) simultaneous class II @entity3054 mutations, while 7 of the 74 controls (9.5%) carried simultaneous mutations (P = 0.036). Earlier studies reported the occurrence of either the 11,778 or 3460 @entity3054 type mutations in @entity15 @entity1 with a positive @entity3054 pedigree and/or with a disease course predominantly involving the optic nerves. The mutations we detected did not correlate with the severity of @entity227 in either @entity3054 or @entity15 , rather they seemed to be present in randomly selected @entity15 @entity1 . We conclude that the mutations with primary pathogenic significance for @entity1939 are not shared between @entity3054 and randomly selected @entity15 . However, the presence of further mitochondrial mutations cannot be excluded in @entity15 . The increased incidence of the simultaneous class II @entity3054 mutations in @entity15 @entity1 (and @entity3054 ) vs controls may indicate that certain sets of mitochrondrial DNA mutations/variants are associated with and predispose to @entity15 , a possibility which needs to be investigated further. Alternatively, a biological disadvantage may be associated with the coexistence of the mutations detected.

Mitochondrial DNA mutations in XXXX .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity227 :: ('MESH:D014786', 'Disease') :: ['visual loss'] @entity1939 :: ('MESH:D001766', 'Disease') :: ['blindness'] @entity3054 :: ('MESH:D029242', 'Disease') :: ["Leber's hereditary optic neuropathy", 'LHON'] @entity15 :: ('MESH:D009103', 'Disease') :: ['MS']
@entity15 :: (MESH:D009103,Disease) :: ['multiple sclerosis']
