CODON-OPTIMIZED NUCLEIC ACID ENCODING SMN1 PROTEIN

• Main Authors: VESELOVA, ANNA SERGEEVNA, GERSHOVICH, PAVEL MIKHAILOVICH, MOROZOV, DMITRY VALENTINOVICH, SHKLIAEVA, MARGARITA ALEKSANDROVNA, MADERA, DMITRIY ALEKSANDROVICH, SHUGAEVA, TATIANA EVGENIEVNA, LOMUNOVA, MARIA ANDREEVNA
• Format: Patent
• Language: English; French
• Published: 09.12.2021
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS THEREOF; CULTURE MEDIA; ENZYMOLOGY; HUMAN NECESSITIES; HYGIENE; MEDICAL OR VETERINARY SCIENCE; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; ORGANIC CHEMISTRY; PEPTIDES; PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS; SPIRITS; VINEGAR; WINE

The present application relates to the fields of genetics, gene therapy, and molecular biology. More specifically, the present invention relates to an isolated codon-optimized nucleic acid that encodes the SMN1 protein (survival motor neuron protein), an expression cassette and a vector based thereon, as well as an AAV9 (adeno-associated virus serotype 9)-based recombinant virus for increasing the expression of the SMN1 gene in target cells, and use thereof. La présente invention se rapporte au domaine de la génétique, de la thérapie génique et de la biologie moléculaire. L'invention concerne plus précisément un acide nucléique optimisé par codons séparé qui code la protéine SMN1 (protéine de survivance des neurones moteurs), une cassette d'expression et un vecteur à base de celle-ci, ainsi qu'un virus recombinant à base de AAV9 (virus adéno-associé de sérotype 9) afin d'augmenter l'expression du gène SMN1 dans des cellules cibles, ainsi que l'utilisation de celui-ci.