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Int. J. Mol. Sci. 2011, 12(10), 6733-6742; doi:10.3390/ijms12106733
Review

The Role of microRNAs in the Biology of Rare Diseases

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 and *
Received: 2 September 2011; in revised form: 21 September 2011 / Accepted: 30 September 2011 / Published: 11 October 2011
(This article belongs to the Special Issue Advances in Molecular Diagnostics)
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Abstract: Rare diseases (RD) are characterized by low prevalence and affect not more than five individuals per 10,000 in the European population; they are a large and heterogeneous group of disorders including more than 7,000 conditions and often involve all organs and tissues, with several clinical subtypes within the same disease. Very often information concerning either diagnosis and/or prognosis on many RD is insufficient. microRNAs are a class of small non-coding RNAs that regulate gene expression at the posttranscriptional level by either degrading or blocking translation of messenger RNA targets. Recently, microRNA expression patterns of body fluids underscored their potential as noninvasive biomarkers for various diseases. The role of microRNAs as potential biomarkers has become particularly attractive. The identification of disease-related microRNAs is essential for understanding the pathogenesis of diseases at the molecular level, and is critical for designing specific molecular tools for diagnosis, treatment and prevention. Computational analysis of microRNA-disease associations is an important complementary means for prioritizing microRNAs for further experimental examination. In this article, we explored the added value of miRs as biomarkers in a selected panel of RD hitting different tissues/systems at different life stages, but sharing the need of better biomarkers for diagnostic and prognostic purposes.
Keywords: microRNA; rare disease; biomarker; hepatoblastoma; multiple osteochondromas; Sezary syndrome; Hailey-Hailey disease; Rett syndrome microRNA; rare disease; biomarker; hepatoblastoma; multiple osteochondromas; Sezary syndrome; Hailey-Hailey disease; Rett syndrome
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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MDPI and ACS Style

Salvatore, M.; Magrelli, A.; Taruscio, D. The Role of microRNAs in the Biology of Rare Diseases. Int. J. Mol. Sci. 2011, 12, 6733-6742.

AMA Style

Salvatore M, Magrelli A, Taruscio D. The Role of microRNAs in the Biology of Rare Diseases. International Journal of Molecular Sciences. 2011; 12(10):6733-6742.

Chicago/Turabian Style

Salvatore, Marco; Magrelli, Armando; Taruscio, Domenica. 2011. "The Role of microRNAs in the Biology of Rare Diseases." Int. J. Mol. Sci. 12, no. 10: 6733-6742.


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