HOPE FOR PEOPLE WITH A GENETIC DISORDER

Mutations in our DNA can make us ill. But some of these illnesses result from defects in DNA sequences that were previously thought to be unimportant. A Danish research group has now explained why the defective sequences can cause illness and how people with genetic disorders can become well again easily and safely.

Just 57 genetic letters are the difference between being healthy or ill: between a long life or an early death from kidney failure or heart disease. This applies to people who have a specific type of Fabry disease. What is noteworthy is that the defective sequence is in the part of the gene that is normally removed before the gene is translated into protein. Danish researchers have now charted the mechanism behind the deficiency and have discovered a method for correcting this.

“People with Fabry disease cannot produce alpha-galactosidase-A, an enzyme that breaks down glycosphingolipids. This means that these lipids accumulate and slowly destroy kidney and heart tissue. The paradox is the genetic code is apparently not defective. The deficiency only occurs when the individual parts of the genetic code are spliced together before they are translated into protein. We now believe that we can rectify this,” explains Brage Storstein Andresen, Professor at the Department of Biochemistry and Molecular Biology of the University of Southern Denmark.

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