Every human being is made up same internal organs and compartments along with the specified functioning. If even a single organ stops serving its action, a person starts suffering from several ailments which are either curable or not depending on the ailment. Rarest Disease In The World Diseases is common among nearly every person in the world. But have you heard of the rarest disease being observed on the planet to date? If not, keep reading to get to your answer in detail.
About the RPI deficiency.
RPI Deficiency or Ribose-5 phosphate isomerase deficiency is the rarest disease ever to exist in the world’s total population. As per the Journal of Molecular Medicine, this deficiency is rarest with undergone DNA analysis and MRI revealing only one case in human history. Rarest Disease In The World
It was in 1984 when a person put forward the question regarding a white matter disease with the MRI diagnosis being done in 1999, the disease came under the limelight. But the exact molecular machinery behind the disease is not yet known and scientists are constantly working to get away out to learn about this disease. Rarest Disease In The World
Ribose 5-phosphate isomerase (RPI) deficiency is observed as an enzymopathy of the pentose phosphate pathway which is an important pathway in the human system.
Associated facts and concepts.
RPI deficiency validates with tolerant leukoencephalopathy and peripheral neuropathy. Till today, only a single case of this disease has been reported across the globe. This disease involves a person of being carrying a missense (RPI(Ala61Val)) allele along with a frameshift mutation.
After several studies, it is revealed that the combination of an RPI null allele with an allele that encodes for a partially active enzyme having cell-type-dependent expression deficit is the major cause of RPI deficiency. Rarest Disease In The World
After implementing the systemic metabolic profiling, a person with RPI deficiency was identified to have increased levels of arabitol and ribitol in the pretentious portion of the brain and bodily fluids. Subsequently, such an analysis resulted in the discovery of a defect in the Pentose phosphate pathways’ enzyme named ribose 5-phosphate isomerase (RPI).
When the cDNA coding for RPI was sequenced, two genetic mutations were keenly observed. One is the frameshift mutation that caused the untimely termination of codon (c.540delG) congenitally received from the mother and another missense mutation on (c.182-C→T) which caused a substitution of alanine to valine at the 61st codon. Rarest Disease In The World
To make sure that patient cells are lacking an apt amount of ribose 5-phosphate isomerase activity, levels of ribulose 5-phosphate/xylulose 5-phosphate along with ribose 5-phosphate formation in fibroblast extracts can be examined. Moreover, both ribitol and arabitol are the genetic markers of this disease.
More about the disease.
Even if the disease is considered to be extremely rare, scientists are continuously trying to find out the exact reason for its occurrence. It happening at an extremely rarest level makes the experimentation a bit tedious as the body system with the particular disorder is needed for the study of behaviors, effects on organs, and genetics of any particular disease. Rarest Disease In The World
