Tohoku University · Medicine
Professor Masashi Aoki's research lab focuses on neuromuscular disorders, particularly amyotrophic lateral sclerosis (ALS) and muscular dystrophies, with an emphasis on identifying genetic and molecular mechanisms underlying disease progression. The lab investigates genes such as dysferlin, SOD1, and EAAT2, exploring their roles in protein misfolding, endolysosomal trafficking, and glutamate transporter dysfunction. A key research direction involves understanding how disruptions in cellular degradation pathways, including autophagy and endosomal trafficking, contribute to neurodegeneration. The lab also examines surgical outcomes in musculoskeletal conditions, such as rotator cuff repair, integrating clinical and biomechanical assessments.
Figures are computed from collected data and may differ slightly.
We treated 12 shoulders in ten patients with irreparable rotator-cuff tears by transfer of the latissimus dorsi. There were nine men and one woman. Their average age was 64.0 years and the average follow-up was 35.6 months (26 to 42). The results were excellent in four shoulders, good in four, fair in one, and poor in three. Active forward flexion improved from a preoperative average of 99 degrees to a postoperative average of 135 degrees. Osteoarthritic changes appeared in five shoulders and pr
This study confirms that the dysferlin gene is mutated in MM and LGMD2B and extends understanding of the timing of onset of the disease. Knowledge of the genomic organization of the gene will facilitate mutation detection and investigations of the molecular biologic properties of the dysferlin gene.
Recently, variant mRNA transcripts for the astroglial glutamate transporter EAAT2 have been detected in brain tissues of 60% of patients with sporadic amyotrophic lateral sclerosis (SALS). We have tested the hypothesis that the gene for EAAT2 may be defective in some ALS cases. In 16 familial ALS (FALS) pedigrees without mutations in SOD1, we failed to detect genetic linkage to the EAAT2 locus. We next characterized the genomic organization of the EAAT2 gene and used single-strand conformation p
After flexor tendon repair there is often increased resistance to tendon gliding at the repair site, which is greater for techniques using increased suture strands or suture material. This increased "friction" may be measured as the "work of flexion" in the laboratory setting. Tendon repairs performed in zone 2 in human cadaver hands using the two strand Kessler, the lateral Becker, the six strand Savage, internal and dorsal tendon splint, or the external mesh sleeve techniques, had "work of fle
Based on these observations, although molecular basis for the distinctive susceptibilities to ALS2 loss in different mutant SOD1-expressing ALS models is still elusive, disturbance of the endolysosomal system by ALS2 loss may exacerbate the SOD1(H46R)-mediated neurotoxicity by accelerating the accumulation of immature vesicles and misfolded proteins in the spinal cord. We propose that ALS2 is implicated in endolysosomal trafficking through the fusion between endosomes and autophagosomes, thereby
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