Primary ciliary dyskinesia (PCD) is a heterogeneous autosomal recessive disease marked by organ lateralization in 50% of patients, chronic sinopulmonary disease, infertility in men, and neonatal respiratory distress. Respiratory control cells contain in their apical cytoplasm, which is necessary for the development of multiciliate cells, basal body amplification, and migration. Reduced generation of multiple motile cilia, a rare form of PCD, has been linked to gene abnormalities Individuals with mutations have been reported to suffer from severe lower respiratory infections that cause progressive impairment of lung function. For the first time, we describe the (c.258 262dup.p, Gln88argfs*8 Homozygous) gene mutation in an Indian consanguineous family that resulted in severe PCD.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10787941 | PMC |
http://dx.doi.org/10.7759/cureus.52237 | DOI Listing |
Life Sci Alliance
April 2025
https://ror.org/0040axw97 Yunnan Key Laboratory of Cell Metabolism and Diseases, State Key Laboratory for Conservation and Utilization of Bio-Resources in Yunnan, Center for Life Sciences, School of Life Sciences, Yunnan University, Kunming, China
NME7 (nucleoside diphosphate kinase 7), a lesser studied member of the non-metastatic expressed (NME) family, has been reported as a potential subunit of the γ-tubulin ring complex (γTuRC). However, its role in the cilium assembly and function remains unclear. Our research demonstrated that NME7 is located at the centrosome, including at the spindle poles during metaphase and at the basal bodies during cilium assembly.
View Article and Find Full Text PDFPort J Card Thorac Vasc Surg
October 2024
Thoracic Surgery Department - Hospital de Santa Marta, Centro Hospitalar Universitário Lisboa Central, Portugal.
Kartagener syndrome (KS) is a rare congenital disorder, characterized by sinusitis, bronchiectasis and situs inversus. Lung transplantation is an effective treatment for end-stage lung failure, but dextrocardia and differences between hilar structures and pulmonary lobes require adjustments to conventional surgical technique. We present a case of a double-lung transplant without extracorporeal oxygenation in a 48-year-old male patient with KS.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Biological Science, Sookmyung Women's University, Seoul, 04310, Republic of Korea.
Primary cilia are sensory organelles that regulate various signaling pathways. When microtubules are compared to a highway, motor proteins carry and transport cargo proteins, which are tuned by post-translational modifications, such as acetylation. However, the role of acetylation in primary cilia regulation remains unclear.
View Article and Find Full Text PDFSci Prog
January 2025
Department of Biochemistry and Molecular Biology, School of Preclinical Medicine, Zunyi Medical University, Zunyi, Guizhou, China.
Vangl2, a core component of the PCP signaling pathway, serves as a scaffold protein on the cell membrane, playing a crucial role in organizing protein complexes. Cilia, dynamic structures on the cell surface, carry out a wide range of functions. Research has highlighted a bidirectional regulatory interaction between Vangl2 and cilia, underscoring their interconnected roles in cellular processes.
View Article and Find Full Text PDFPediatr Pulmonol
January 2025
Department of Pediatrics and Adolescent Medicine, Danish PCD Centre, Danish Pediatric Pulmonary Service, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!