5q-Syndrome

An integral part of the machinery involved in protein synthesis are ribosomes. According to recent research, ribosomal proteins perform additional roles in apoptosis, differentiation, cell division, DNA repair, and other biological processes. Dysfunction of ribosomal proteins has been associated with the onset and advancement of cancer, metabolic, hematological, and cardiovascular illnesses. A rare genetic condition known as 5q-syndrome is brought on by mutations that impact the ribosomal protein-encoding genes.

Van Den Berghe initially identified the 5q-condition, a myelodysplastic syndrome, in 1974 in three individuals who had interstitial deletions of the long arm of chromosome 5 and refractory anemia. About 10% of patients with 5q-syndrome may develop acute myeloid leukemia, however the majority of patients with the illness stay stable and asymptomatic for years. Furthermore, 5q-syndrome frequently affects older females and results in treatment-resistant macrocytic anemia.

For more: Ribosomal Proteins and 5q-Syndrome

 

 

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