DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.

ABSTRACT:

Background

Sphingolipids are important components of cellular membranes and functionally associated with fundamental processes such as cell differentiation, neuronal signaling, and myelin sheath formation. Defects in the synthesis or degradation of sphingolipids leads to various neurological pathologies; however, the entire spectrum of sphingolipid metabolism disorders remains elusive.

Methods

A combined approach of genomics and lipidomics was applied to identify and characterize a human sphingolipid metabolism disorder.

Results

By whole-exome sequencing in a patient with a multisystem neurological disorder of both the central and peripheral nervous systems, we identified a homozygous p.Ala280Val variant in DEGS1, which catalyzes the last step in the ceramide synthesi

SUBMITTER: Karsai G 

PROVIDER: S-EPMC6391115 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature