Splice-altering strategies in a patient-derived oligodendrocyte cell model for PLP1-associated hypomyelination of early myelinating structures
Bianca Zardetto, Marlen Lauffer, Dion den Hertog, Ronald Buijsen, Annemieke Aartsma-Rus, Willeke van Roon-Mom · FENS Forum 2024
Proteolipid protein 1 (PLP1) plays a fundamental role in myelin sheath maintenance and oligodendrocyte development in the central nervous system. Through an alternative splicing process, the 7-exons-containing transcript (NM_000533.5) also produces a shorter isoform (DM20) that includes only exon 3A, whereas PLP1 includes exons 3A and 3B. Variants causing decreased PLP1 transcript levels are associated with features of hypomyelination of early myelinating structures. Antisense oligonucleotides (ASOs), small, single-stranded pieces of modified nucleic acids, can be used to modulate splicing and
ePoster · Neuroscience