A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans.

ABSTRACT:

Study objectives

Earlier work described a mutation in DEC2 also known as BHLHE41 (basic helix-loophelix family member e41) as causal in a family of short sleepers, who needed just 6 h sleep per night. We evaluated whether there were other variants of this gene in two well-phenotyped cohorts.

Design

Sequencing of the BHLHE41 gene, electroencephalographic data, and delta power analysis and functional studies using cell-based luciferase.

Results

We identified new variants of the BHLHE41 gene in two cohorts who had either acute sleep deprivation (n = 200) or chronic partial sleep deprivation (n = 217). One variant, Y362H, at another location in the same exon occurred in one twin in a dizygotic twin pair and was associated with reduced sleep duration, less recovery sleep f

SUBMITTER: Pellegrino R 

PROVIDER: S-EPMC4096202 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature