Question

DELETION OF SNORD116, A PRADER-WILLI SYNDROME CANDIDATE GENE, DOES NOT AFFECT CIRCADIAN RHYTHMS IN MICE MODELS

Answer 1

Prader-Willi syndrome (PWS) is a gentic disorder which has an impact on numerous physiological systems. PWS affected individuals (specifically babies) experience delayed growth, significant hypotonia (low muscle tone), and feeding issues. It does effect circadian rhythms in mice models.

SNORD116, often referred to as HBII-85, is a non-coding RNA (ncRNA) molecule that contributes to the alteration of other small nuclear RNAs (snRNAs). Unlike the majority of other snoRNAs, SNORD116 is not significantly complementary to ribosomal RNA and is expressed widely in the brain (but not in PWS patients).

According to the studies, SNORD116 cause sleep defect in patients with Prader-Willi syndrome. Same observation was seen in mouse models too. Paternal expression of SNORD116 is thought to be a potential gene for the sleep disruptions/circadian rhythm’s that the majority of PWS sufferers.

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