Demyelination in hereditary sensory neuropathy type-1C.

ABSTRACT:

Objective

Sphingolipids are enriched in the nerves. Serine-palmitoyltransferase (SPT) catalyzes the key step of sphingolipids biosynthesis. Mutations in SPT subunits (SPTLC) lead to the excessive production of neurotoxic deoxysphingolipids (DoxSLs) in patients with Hereditary Sensory Neuropathy Type-1C (HSN1C). HSN1C is an autosomal dominant peripheral neuropathy characterized by sensory loss and distal muscle weakness. In this study, by leveraging a HSN1C family with a previously reported N177D mutation in SPTLC2, we aim to further define the spectrum of DoxSL species and the peripheral neve pathology of the disease.

Methods

Next-generation sequencing along with Sanger confirmation was performed for family members and healthy controls. LC-MS was used for lipidomic analysis

SUBMITTER: Saba S 

PROVIDER: S-EPMC7480917 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature