RNase MRP

RNase MRP

Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*

Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012

Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow

Genetics: autosomal recessive disorder due to mutations in RMRP, encoding the untranslated RNA subunit of the ribonucleoprotein endoribonuclease (RNase MRP); CHH-associated mutations lead to decreased cell growth by impairing ribosomal assembly and by altering cyclin-dependent cell cycle regulation.

Ribosomopathies and cancer: pharmacological implications

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Journal Information

Published in Expert Review of Clinical Pharmacology, 2022

Gazmend Temaj, Sarmistha Saha, Shpend Dragusha, Valon Ejupi, Brigitta Buttari, Elisabetta Profumo, Lule Beqa, Luciano Saso

11) Cartilage-hair hypoplasia (CHH) is a disorder of bone growth characterized by short stature with other skeletal abnormalities, sparse hair, and abnormal immune system function. People affected by CHH have short limbs and long bones in their arms and legs, respectively. Mutations in RMRP are known to cause CHH. Unlike many other genes, the RMRP gene does not contain instructions for synthesizing a specific protein. RMRP participates in non-coding RNA synthesis. Subsequently, this RNA is involved in different processes and forms an enzyme complex called mitochondrial RNA-processing endonuclease (RNase MRP). RNase MRP is involved in RNA processing, which is required to assemble building blocks into functional proteins [43,282–285].

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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*

Ribosomopathies and cancer: pharmacological implications