Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A.

Article Details

Citation

Ferlinz K, Hurwitz R, Sandhoff K

Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A.

Biochem Biophys Res Commun. 1991 Sep 30;179(3):1187-91.

PubMed ID
1718266 [ View in PubMed
]
Abstract

Niemann-Pick disease, an autosomal recessive lysosomal storage disorder, is caused by deficiency of acid sphingomyelinase. Sequence analysis of mRNA and genomic DNA of fibroblasts of a type A patient showed a single G1729 to A nucleotide transition. This mutation resulted in a substitution of serine for normal glycine at position 577 of the peptide sequence. Amplification of the genomic DNA region around the mutation and subsequent sequencing yielded exclusively the same base change found at the cDNA level. Expression studies with this abnormal cDNA in COS-1 cells revealed a complete loss of enzymatic activity of the mutated protein. These findings indicate that this mutation is responsible for the clinical disease of the patient.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Sphingomyelin phosphodiesteraseP17405Details