Ribosome Disorders: What Happens When Ribosome Functions Go Wrong?

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Faults with Ribosome Functions

There is an ever increasing number of diseases associated with ribosomes, or that faulty ribosomes contribute to. This is primarily due to errors with ribosomal proteins or the genes that code for them. With a pivotal role in the human body, anything that disrupts the function of ribosomes (their ability to make proteins) has potentially serious and sometimes fatal consequences.

Diseases and Ribosomes

What follows are a few examples of diseases that are now being associated with ribosomes:

Problems with ribosome function have been associated with the early onset of Alzheimer’s disease. Writing in the March 2006 edition of the Journal of Neuroscience, scientists from the University of Kentucky observed that impairment of the function of ribosomes was correlated with a decreased rate of protein synthesis and decreased levels of ribosomal RNA and transfer RNA. The researchers believe that this could be a clear indication that mechanisms that affect protein synthesis are instrumental to the onset and development of Alzheimer’s disease.

Diamond-Blackfan anaemia is a condition where individuals have a low red blood cell count. Red blood cells are needed to transport oxygen round the body. It is an extremely rare condition and though the exact causes are unknown the faults are believed to be with blood cell production in the bone marrow. Scientists have focused their attention on a gene called RBS19 (ribosomal protein 19). According to the Diamond Blackfan Anaemia Foundation, it is now widely accepted that the condition is a ribosomal protein disease. What appears to be happening is that mutations in this gene affect translation and protein synthesis. RBS19 plays a pivotal role in the manufacture of ribosomes, so loss of function will have serious knock-on effects.

Another disease associated with ribosomes is gastric cancer. In 2006 Hui Wang et al from China’s Xijing Hospital published a paper in Biomed Central where they observed that over expression of ribosomal protein LP15 was associated with cell proliferation. Inhibition of protein expression suppressed cell growth significantly.

New Therapeutic Targets

There are 79 ribosomal proteins in vertebrates. Understanding more about why they sometimes fail will give us a better understanding of the onset and development of many diseases, as well as providing potential new targets for therapies.