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DEC1 and DEC2 mutation genes on regulating sleep times


prankstare

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Hello there! :)

 

Could some expert try to "simplify" (but not too much) the very cientific and detailed explanation given about the mutation of the DEC1 and DEC2 genes in regulating the overall time we need of sleep?

 

 

The circadian rhythms in mammals are regulated by a pacemaker located in the suprachiasmatic nucleus of the hypothalamus. Four clock-gene families have been found to be involved in a transcription–translation feedback loop that generates the circadian rhythm at the intracellular level3. The proteins Clock and Bmal1 form a heterodimer which activates the transcription of the Per gene from the E-box elements in its promoter region. Protein products of Per act together with Cry proteins to inhibit Per transcription' date=' thus closing the autoregulatory feedback loop. We found that Dec1 and Dec2, basic helix–loop–helix transcription factors, repressed Clock/Bmal1-induced transactivation of the mouse Per1 promoter through direct protein–protein interactions with Bmal1 and/or competition for E-box elements. Dec1 and Dec2 are expressed in the suprachiasmic nucleus in a circadian fashion, with a peak in the subjective day. A brief light pulse induced Dec1 but not Dec2 expression in the suprachiasmic nucleus in a phase-dependent manner. Dec1 and Dec2 are regulators of the mammalian molecular clock, and form a fifth clock-gene family.[/b']

 

http://www.nature.com/nature/journal/v419/n6909/full/nature01123.html

 

 

PS: remember, not that much simplified, as I'd like to know what exactly mutation of these genes do to make sleep times lesser than the usual in humans - why? would it be that mutation in these genes make our cells spend less energy so that we go to bed "less" tired or would it be that mutation in these genes changes somehow the sleep patterns (for example, more of deep sleep which is the recover sleep)?

Edited by prankstare
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I think the answers that you want to see are more down the road than what the paper provides. They essentially describe a regulatory circuit that are elements in controlling circadian rhythm, and provide evidence that they are indeed elements of the circadian clock. What effects mutations would have are guesswork at best at this point (without physiological data). They are just part of a larger regulatory machinery and it is hard to predict, even if all the targets are known.

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