Why the new genetic mutation found to protect against HIV is not a blessing


Spanish researchers have discovered a second genetic mutation that would play a protective role against HIV. However, it is not a blessing, says the Spanish news agency SINC. This mutation is indeed at the origin of a rare disease, myopathy of belts type 1F, which causes a rare hereditary muscular dystrophy. It affects only one family in Spain, at the origin of an association which co-financed the study thanks to a campaign of crowdfunding.

Why the clinical interest is to qualify. A mutation of the CCR5 gene that protects against HIV by modifying certain receptors expressed on the surface of white blood cells has been known since about twenty years ago. Gene therapies on this basis are currently under study. But the new mutation, on the gene encoding Transportin-3, is here associated with a serious muscle disease. To make it a therapeutic tool for HIV patients, it will first be necessary to cancel the action of the protein at the muscular level … a research issue that remains very fundamental.


Read the article from the Spanish scientific news agency SINC (ES)

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