A team of researchers led by Dr. Francis Collins, director ofthe National Institutes of Health (NIH) discovered a link between arare disease letting children age 7 times faster and the naturalphenomenon of ageing of healthy humans.
They targeted a key protein called progerin and speculated onfuture treatments that could delay the ageing of the human body. “Ithink a lot of people in the past have assumed that the aging ofcells and of individuals was just a matter of everything runningdown. What we are learning at the cellular level… is that [thisis] not right,” stated Collins.
Ageing is understood to be connected with the process of celldivision (meiosis). Every time meiosis takes place, the tips ofchromosomes, called telomeres, become slightly shorter. Chromosomescarry all our genetic information and once their telomeres are toodegenerated, the cell dies. Collins and his team now showed thatthe link between the shrinking telomeres and the signal to the cellto die is controlled by the protein progerin. The very same proteinwas found to cause the rare genetic disease Hutchinson-GilfordProgeria Syndrome (HGPS) which makes children age rapidly includingsymptoms such as wrinkled skin, hair loss, arthritis and cloggedarteries.
Children suffering from this symptom have a life expectancy ofaround 13 years and show a genetic mutation in a gene controllingthe production of progerin. Ageing as a consequence does not appearto be a simple decay of the body per se but rather anactive biological mechanism hardcoded in our DNA. Theoretically,suppressing the creation of progerin could help delay the processof ageing.
Already now, researchers are working with a group of childrensuffering from HGPS in order to develop a procedure loweringexcessive levels of this protein in their body system. Whethertherapies resulting from this study will yield a fountain of youthfor mankind is highly speculative.
Studying Rare Diseases
Remarkable in this context is that these insights were gained bystudying a rare disease such as HGPS. Pharmaceutical companiesusually show little support for such research. Developing drugs forrare diseases has only a small market demand, given the relativelylarge costs to develop cures. In the EU a disease is officiallyseen as a rare disease or ‘orphan disease’ when it affects only0,05% of the population.
To foster research into this area, both US and EU institutionscreated financial incentives to invest in rare disease relatedR&D while speeding up market approval of ‘orphan drugs’offering a cure. Pharmaceutical companies developing orphan drugsfor instance have the exclusive right to market the drug for 10years keeping generic competitors out. Collins supports fosteringresearch into rare diseases arguing that: “it is often the insightsthat come from the rare diseases that teach us something about morecommon ones.”
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