A closer look at ARSA activity in a patient with metachromatic leukodystrophy
نویسندگان
چکیده
منابع مشابه
A novel ARSA gene mutation c.302delG in a Chinese patient with metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder mainly caused by the arysulfatase A (ARSA) gene mutations, which results in ARSA activity deficient to accumulate sulfatide in the oligodendrocytes and in the Schwann cells. On the basis of the age of onset, MLD is characterized by three clinical subtypes: late infantile, juvenile, and adult. In this manuscr...
متن کاملIdentification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
Metachromatic leukodystrophy (MLD; MIM 250100), a severe neurodegenerative disorder inherited as an autosomal recessive trait, is caused by mutations in the arylsulfatase A (ARSA) gene. Although several germ line ARSA mutations have been identified in patients with MLD of various ethnic backgrounds elsewhere in the world, no genetically confirmed cases of MLD have been reported in Korea. Recent...
متن کاملAn arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD)
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulphatase A (ARSA) (EC 3.1.6.8). MLD involves progressive demyelination, resulting in a variety of neurological symptoms varying in severity (Kolodny and Fluharty, 1995). The ARSA gene consists of eight exons encoding the 507 amino acid enzyme (Stein et al, 1989). It is transcr...
متن کاملIdentification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a...
متن کاملFour novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. In this study, the ARSA gene in 12 non-consanguineous MLD patients and 40 healthy individuals was examined using pol...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2019
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2019.100460