Research published in Nature Genetic explores the role genes might play in a newly described sleep apnea condition, developmental delay with sleep apnea (DDSA), highlighting not only an important new role for two-pore-domain potassium channels and their link with sleep apnea but also identifying possible therapeutic strategies.

The study describes DDSA, which is caused by de novo gain-of function variants clustering in the X-gate motif of the TASK-1 channel encoded by KCNK3. TASK-1 is a K+ channel implicated in the control of breathing, but its link with sleep apnea remains poorly understood. 

Functional studies indicate that TASK channel inhibitors may be effective at inhibiting abnormal channel activity caused by these variants, illuminating the underlying biology of sleep apnea and pointing to possible therapeutic options for patients with DDSA and common sleep apnea.

Such connections better enable the exploration of pharmacological solutions to common diseases impacting wide swaths of the general population, according to a press release from GeneDx, which contributed data and authorship to the research. 

“These findings indicate how research into rare disease can uncover findings that are potentially applicable to much broader segments of the general population and also represent important progress for the pharmacological management of sleep apnea,” says Paul Kruszka, MD, chief medical officer of GeneDx, in a press release. “Sleep apnea’s high prevalence and the imperfection of existing therapies mean there is sizeable appetite for developing new treatment approaches.”

While findings offer “a realistic prospect for therapeutic intervention in DDSA probands” that may improve quality of life, it remains to be determined precisely how TASK-1 dysfunction produces the phenotype observed in DDSA, in particular sleep apnea, says the study. 

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