AN ADULT-TYPE METACHROMATIC LEUKODYSTROPHY CAUSED BY SUBSTITUTION OF SERINE FOR GLYCINE-122 IN ARYLSULFATASE-A

作者：HONKE K^*; KOBAYASHI T; FUJII T; GASA S; XU M; TAKAMARU Y; KONDO R; TSUJI S; MAKITA A

来源：Human Genetics, 1993, 92(5): 451-456.

DOI：10.1007/BF00216449

Metachromatic leukodystrophy (MLD) is a lysosomal storage disease with autosomal recessive inheritance caused by a deficiency of the enzyme arylsulfatase A (ASA). We have identified a new mutation in the ASA gene of a patient with adult-type MLD. In this mutation, the glycine at position 122, a highly conserved residue in the AS gene family, was replaced by serine. In a transient expression study, COS cells transfected with the mutant cDNA carrying 122Gly-->Ser did not show an increase of ASA activity and produced little material immunoreactive to an anti-ASA antibody, despite normal mRNA levels.

• 出版日期1993-11