Essential role of the TRIC-B channel in Ca2+ handling of alveolar epithelial cells and in perinatal lung maturation

Yamazaki, Daiju; Komazaki, Shinji; Nakanishi, Hiroki; Mishima, Aya; Nishi, Miyuki; Yazawa, Masayuki; Yamazaki, Tetsuo; Taguchi, Ryo; Takeshima, Hiroshi

doi:10.1242/dev.036798

Cited by 64 publications

(83 citation statements)

References 32 publications

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“…TRIC B is a monovalent cation specific channel that is necessary for intracellu lar calcium flux and is involved in cell differentiation 95 . Tmem38b −/− mice are neonatally lethal and have reduced bone volume 95,96 . Defective ER calcium flux dysregulates collagen synthesis by multiple ER enzymes 94,97 (FIG.…”

Section: Box 1 | Classification Of Osteogenesis Imperfectamentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

577

582

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| Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation. NATURE REVIEWS | DISEASE PRIMERS VOLUME 3 | ARTICLE NUMBER 17052 | 1 PRIMER © 2 0 1 7 M a c m i l l a n P u b l i s h e r s L i m i t e d , p a r t o f S p r i n g e r N a t u r e . A l l r i g h t s r e s e r v e d .In this Primer, we provide an overview of epidemio logy, genetics and pathophysiology of osteogenesis imperfecta, as well as diagnosis and management. EpidemiologyStudies from Europe and the United States have found a birth prevalence of osteogenesis imperfecta of 0.3-0.7 per 10,000 births 5,6 . These birth cohort analyses reflect more severe types of osteogenesis imperfecta and do not include more subtle types that become apparent after birth. A population based study that used the Danish National Patient Register found an annual incidence of osteogenesis imperfecta of 1.5 per 10,000 births between 1997 and 2013 (REF. 7). Population surveys in countries with comprehensive medical databases, such as Finland, estimated a prevalence of about 0.5 per 10,000 individ uals 8 , with most having phenotypically milder osteo genesis imperfecta type I and type IV (BOX 1; TABLE 1). Because these birth cohort and population surveys are based on clinical findings and tend to find mutu ally exclusive populations, a reasonable estimate of the incidence of osteogenesis imperfecta is about 1 per 10,000 individuals. Most patients are heterozygous for mutations in COL1A1 or COL1A2. No difference in the prevalence between sexes was reported.Approximately 90% of the 3,000 individuals whose mutations ha...

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Section: Box 1 | Classification Of Osteogenesis Imperfectamentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

577

582

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“…26) Although Tric-b-knockout mice are slightly smaller in whole body size than wild-type controls, 12) their overall skeletal formation is macroscopically normal. However, in the knockout mice, bone mineralization was remarkably poor; both calcium and collagen depositions were obviously decreased in major bones including the skull, ribs, and femur.…”

Section: Oi-like Phenotype In Tric-b-knockout Micementioning

confidence: 99%

“…From a phenotypical point of view, it is worth mentioning the difference in lung function between the knockout mice and human OI patients. Tric-b-knockout mice exhibit birth asphyxia due to poor surfactant production in alveolar epithelial cells, 12) while no respiratory failure was reported in the OI patients. [21][22][23][24] It is unclear why this phenotypical difference is observed.…”

Section: Future Perspectivementioning

confidence: 99%

“…In mouse alveolar cells, Tric-a expression is very low, and TRIC-B channels might predominantly mediate counter-ionic currents during ER Ca 2+ release. 12) In contrast, compensatory activation of other channels/transporters, including TRIC-A channels, could preserve surfactant production in human alveolar cells. For better understanding the molecular basis of counter-ionic flows in non-excitable cells, it may be important to compare gene expression between mouse and human alveolar epithelial cells and to profile candidate channels/transporters in the ER.…”

Section: Future Perspectivementioning

confidence: 99%

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TRIC-B Mutations Causing Osteogenesis Imperfecta

Ichimura

Takeshima

2016

Biological & Pharmaceutical Bulletin

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Trimeric intracellular cation (TRIC) channel subtypes, namely TRIC-A and TRIC-B, are expressed in the endoplasmic/sarcoplasmic reticulum and nuclear envelope, and likely function as monovalent cation channels in various cell types. Our studies using knockout mice so far suggest that TRIC subtypes support Ca 2 release from intracellular stores by mediating counter-cationic fluxes. Several genetic mutations within the TRIC-B locus were recently identified in autosomal recessive osteogenesis imperfecta (OI) patients. However, the molecular mechanism by which the mutations cause human disease is not fully addressed. We found that Tric-b-knockout mice exhibit poor bone ossification and thus serve as an OI-model animal. Studies on Tric-b-knockout bones and cultured cell lines derived from the patients currently reveal the main part of the pathophysiological mechanism involved in the TRIC-B-mutated OI form. This mini-review focuses on the essential role of TRIC-B channels in bone ossification.

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“…Moreover, mutant skeletal muscle from Tric-a knock-out mice occasionally exhibits alternan contraction responses, likely due to destabilized RyR-mediated Ca 2ϩ release (16). On the other hand, Tric-b knock-out mice develop respiratory failure at birth, and the mutant alveolar epithelial cells exhibit compromised IP 3 R-mediated Ca 2ϩ release and insufficient handling of surfactant lipids (17). These defects observed in the knock-out mice support our hypothesis that TRIC channel subtypes partly mediate counterion movements to facilitate SR/ER Ca 2ϩ release.…”

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confidence: 99%