HUMAN MITOCHONDRIAL DYNAMINE MSP1 AND ITS USE IN THERAPEUTICS

摘要

The invention concerns a human protein belonging to the family of dynamins, called MSP1, and its 7 MSP1-X isoforms, whereof the mutations are in particular responsible for dominant optical atrophy. The invention also concerns nucleotide sequences coding for said proteins, its isoforms and their mutated forms, vectors capable of expressing said protein and its isoforms and their mutated forms, in any type of host cells, and cells transformed by said vectors and methods using them. The invention further concerns methods for identifying biological or pharmacological compounds modulating the activity of the inventive protein and its isoforms and the use of said compounds for research and manufacture of active substances useful in therapeutics, in particular for preparing treatment of dominant optical atrophy.