Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss

Shubina-Oleinik et al. (2021) demonstrate the first successful dual-AAV gene therapy for DFNB16 hearing loss in a mouse model with targeted Strc deletion. The full-length STRC coding sequence (~5.3 kb) exceeds single-AAV packaging capacity; the team developed a dual-vector approach using AAV9-PHP.B to split and co-deliver the gene. Outcome: restored STRC expression in OHCs, normalized hair bundle morphology, substantially enhanced cochlear amplification, and improved auditory sensitivity. This is the foundational STRC-specific gene therapy proof-of-concept and the most direct evidence supporting h07’s gene replacement track.

Author note: This paper was cited as “Fang 2021” in earlier h07 notes and audit documents. The first author is Olga Shubina-Oleinik (Holt lab, Harvard). No author named “Fang” appears in the author list. Corrected 2026-04-25 (sweep phase). Holt JR (Jeffrey R. Holt) is the corresponding author.

Key finding

Dual-AAV9-PHP.B restores STRC expression and OHC function in Strc-knockout mice. This directly validates the dual-AAV delivery architecture for STRC in the exact target cells (OHCs) and confirms sensory hair cell transduction efficiency sufficient for functional rescue.

Numbers that matter

ParameterValueUnitsSourceConditions
STRC cDNA size~5.3kbKnown STRC gene structureExceeds single AAV; dual-vector required
AAV serotypeAAV9-PHP.BAbstractCochlear OHC delivery
Outcome: STRC expressionRestoredAbstractOHCs in Strc-KO mice
Outcome: hair bundle morphologyNormalizedAbstractOHC stereocilia
Outcome: cochlear amplificationSubstantially enhancedAbstractDPOAE recovery (specific % not in abstract)
Outcome: auditory sensitivityImprovedAbstractABR threshold reduction
Estimated DFNB16 patient pool~2.3 millionpatientsAbstract~16% of genetic hearing loss

Note: The h07 note states “50% mice show DPOAE recovery” as an interpretation; the abstract does not give this exact percentage. Full text (PMC8673757) should be consulted for specific recovery rates.

Limitations

  • AAV9-PHP.B has well-characterized cochlear tropism but Anc80L65 (Wang 2025) may have superior OHC transduction efficiency.
  • STRC KO mouse (full deletion) ≠ Misha’s compound heterozygous status (paternal deletion + maternal c.4976A>C point mutation). Gene replacement covers both alleles functionally.
  • Neonatal injection likely (as in most cochlear gene therapy); adult efficiency uncertain.
  • Gene replacement provides functional STRC but does not correct endogenous allele; prime/base editing of maternal allele is the parallel track (h07).
  • “50% recovery” figure in h07 prose notes is an interpretation; exact numbers require PMC full text.

Connections