What is SNORD115-13? (G100033450)

Target Name: SNORD115-13

NCBI ID: G100033450

SNORD115-13

Other Name(s): HBII-52-13 | Small nucleolar RNA, C/D box 115-13 | small nucleolar RNA, C/D box 115-13

What is SNORD115-13?

SNORD115-13, also known as C/D box small nucleolar RNA 115-13, is a specific type of small nucleolar RNA (snoRNA). snoRNAs play a crucial role in the modification and processing of other RNA molecules. SNORD115-13 is a member of the SNORD115 snoRNA cluster, which includes a group of related snoRNAs that are located on human chromosome 15q11-q13. This region is known for its involvement in various genetic disorders, including Prader-Willi syndrome (PWS) and Angelman syndrome (AS).

The Importance of SNORD115-13

SNORD115-13 is of particular interest due to its potential role in neurodevelopmental disorders. Studies have shown that SNORD115 snoRNAs are abundantly expressed in the brain, especially in regions crucial for emotional and cognitive functions. The expression of SNORD115-13 is tightly regulated, and any disruption or dysfunction in this process can have significant implications for neurodevelopment.

SNORD115-13 and Prader-Willi Syndrome (PWS)

Prader-Willi syndrome (PWS) is a complex genetic disorder characterized by various physical, cognitive, and behavioral abnormalities. It arises due to the loss of genetic material in the 15q11-q13 region, which includes the SNORD115 snoRNA cluster. Among the snoRNAs in this region, SNORD115-13 has gained significant attention as a potential contributor to the pathogenesis of PWS.

Recent studies have demonstrated a correlation between the loss of SNORD115-13 expression and the development of PWS phenotypes. Animal models lacking SNORD115-13 expression exhibit abnormalities similar to those observed in PWS patients, such as hyperphagia (excessive eating) and obesity. These findings indicate that SNORD115-13 plays a critical role in the regulation of appetite and energy balance.

Furthermore, SNORD115-13 is involved in the maturation of messenger RNAs (mRNAs) encoding proteins implicated in neuronal development and synaptic plasticity. Dysregulation of SNORD115-13 expression may lead to abnormal mRNA processing, affecting the overall neuronal function and potentially contributing to the cognitive impairments observed in individuals with PWS.

SNORD115-13 and Angelman Syndrome (AS)

Angelman syndrome (AS) is another neurodevelopmental disorder associated with the 15q11-q13 region. Unlike PWS, AS arises due to the absence of the ubiquitin protein ligase E3A (UBE3A) gene within this region. While SNORD115-13 is not directly involved in the pathogenesis of AS, it has been found to interact with a UBE3A antisense transcript known as UBE3A-ATS.

Experimental studies have shown that SNORD115-13 binds to UBE3A-ATS and regulates its expression. UBE3A-ATS acts as an inhibitor of UBE3A, which is crucial for normal neuronal development. Dysregulation of the SNORD115-13/UBE3A-ATS interaction may disrupt the balance of UBE3A expression, leading to the characteristic neurological features observed in AS.

SNORD115-13 as a Biomarker and Therapeutic Target

The involvement of SNORD115-13 in neurodevelopmental disorders highlights its potential as a biomarker for the early detection and diagnosis of PWS and AS. Due to the critical role of SNORD115-13 in appetite regulation and synaptic plasticity, quantifying its expression levels may provide valuable insights into the progression and severity of these disorders.

Moreover, the dysregulation of SNORD115-13 presents an attractive therapeutic target. By understanding the molecular mechanisms underlying the expression and function of SNORD115-13, researchers can explore therapeutic strategies aimed at restoring its normal levels or compensating for its loss. Manipulating SNORD115-13 expression holds the potential for ameliorating the symptoms associated with PWS and AS, offering hope for individuals affected by these debilitating disorders.

Conclusion

In conclusion, SNORD115-13 is a snoRNA that plays an essential role in neurodevelopment. Its dysregulation has been associated with Prader-Willi syndrome and implicated in the pathogenesis of Angelman syndrome. SNORD115-13's involvement in appetite regulation, synaptic plasticity, and neuronal development positions it as a promising biomarker and therapeutic target for these neurodevelopmental disorders. Further research into SNORD115-13 may shed light on the underlying molecular mechanisms and pave the way for potential interventions to improve the lives of individuals affected by PWS and AS.

Protein Name: Small Nucleolar RNA, C/D Box 115-13

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