Journal: Orphanet Journal of Rare Diseases

Article Title: DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation

doi: 10.1186/s13023-025-03977-w

Figure Lengend Snippet: Dnah10 KO mice showed typical PCD phototype. ( A ) Heterotaxy of the heart and intestines was observed in Dnah10 KO mice. ( B ) H&E staining of bronchi in lung sections from 40-day-old WT and Dnah10 KO mice revealed that, compared to WT mice, the tracheal epithelia of Dnah10 KO mice exhibited a more clustered distribution of cilia. Scale bar = 10 μm. ( C ) The SEM images depicted the surface of tracheal epithelia from both WT and Dnah10 KO mice. Scale bar = 9 μm. ( D ) TEM images of tracheal epithelium cilia were obtained from both WT and Dnah10 KO mice. Compared to WT mice showing normal “9 + 2” axonemal structure, and intact IDAs (Green arrows), KO mice exhibited disruption of some ciliary axoneme structures, showing single microtubules, loss of a set of doublet microtubules (red dashed box), and absence of IDAs (the red arrow). Scale bar = 200 nm. ( E ) A representative kymograph of nasal cilia from 40-day-old WT and Dnah10 KO mice was obtained through high-speed video microscopy. Scale bar = 0.005s. ( F ) The ciliary beat frequency (CBF) of Dnah10 KO mice was significantly reduced compared to that of WT mice (* P < 0.05). Each group consisted of six mice

Article Snippet: Observation of the organoids was conducted via the video microscopy with a 40× objective (Sprinter-HD Optronics).

Techniques: Staining, Disruption, Microscopy

Journal: Orphanet Journal of Rare Diseases

Article Title: DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation

doi: 10.1186/s13023-025-03977-w

Figure Lengend Snippet: Cryo-electron microscopy identified interactors of DNAH10 in ciliated cells from Dnah10 KO mice. ( A ) DNAH10 interacts with DNAH2 (Uniprot ID: Q9P225 ), DNAI3 ( Q8IWG1 ), DNAI4 ( Q5VTH9 ), DNAI7 ( Q6TDU7 ), DYNLRB1 ( Q9NP97 ), DYNLRB2 ( Q8TF09 ), DYNLL1 ( P63167 ), DYNLT2B ( Q8WW35 ), DYNLT1 ( P63172 ), CFAP43 ( Q8NDM7 ), CFAP44 ( Q96MT7 ), and DNAH12 (E9PG32) to form the IDAf complex using cryo-electron microscopy. ( B ) Co-IP analysis confirmed the interaction between DNAH10 and CCDC73/CFAP57/DYNLL1 in mouse lung tissues. ( C ) Western blot analysis was performed to assess the expression of CCDC73/CFAP57/DYNLL1, which was diminished in Dnah10 KO mice. D-F. Immunofluorescence analysis revealed the expression of CCDC73/CFAP57/DYNLL1 was reduced in ciliated cells from the nasal mucous membrane of patient P02. Scale bars = 5 mm. Red, Ace-tubulin; Green, CCDC73, CFAP57, DYNLL1, respectively; blue, DAPI. G. Immunostaining analysis was performed to investigate the expression of CCDC73, CFAP57, and DYNLL1 in ciliated cells derived from Dnah10 KO nasal epithelium. Red, ace-tubulin; green, CCDC73, CFAP57, and DYNLL1; blue, DAPI; Scale bar = 10 μm

Article Snippet: Observation of the organoids was conducted via the video microscopy with a 40× objective (Sprinter-HD Optronics).

Techniques: Cryo-Electron Microscopy, Co-Immunoprecipitation Assay, Western Blot, Expressing, Immunofluorescence, Membrane, Immunostaining, Derivative Assay