| Grant number: | 14/15948-2 |
| Support type: | Scholarships abroad - Research Internship - Doctorate (Direct) |
| Effective date (Start): | September 12, 2014 |
| Effective date (End): | December 20, 2014 |
| Field of knowledge: | Health Sciences - Medicine - Medical Clinics |
| Principal researcher: | Rui Monteiro de Barros Maciel |
| Grantee: | Marina Malta Letro Kizys Polisel |
| Supervisor abroad: | Costagliola Sabine |
| Home Institution: | Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil |
| Research place: | Université Libre de Bruxelles (ULB), Belgium |
| Associated to the scholarship: | 12/01628-0 - Thyroid dysgenesis: molecular analysis and functional studies of mutations in candidate genes discovered by next generation sequence in a cohort of 268 cases, BP.DD |
Abstract Congenital hypothyroidism (CH) is the most frequent endocrine disorder in newborns. In 85% of cases, CH is due to disturbances in the gland's organogenesis, which result in thyroid hypoplasia, agenesis, ectopy or hemiagenesis. Hemiagenesis, different from the others, is not commonly associated with clinical symptoms and is characterized by the fail of one thyroid lobe to develop. The molecular mechanisms leading to the formation of the two thyroid symmetrical lobes, which are impaired in this pathology and the candidate-genes responsible for hemiagenesis in human, are not known. Next generation sequencing strategies offer now unprecedented research opportunities to decipher the pathogenetic mechanisms of CH. Through Whole Exome Sequencing (WES) from 3 patients and Direct Sequencing from others patients of the cohort with thyroid hemiagenesis (TH), we identified a new candidate-gene possibly related to TH. Therefore, the aim of this project is to perform the functional validation of the first candidate, CCDC. The functional validation will comprise the use of zebrafish (Danio rerio) models to elucidate the involvement of CCDC in TH development. CCDC (coiled-coil domain-containing protein) is required for microtubular attachment of outer dynein arms in the ciliary axoneme and was related to primary ciliary dyskinesia [1, 2], pathology characterized by respiratory distress and situs inversus or cardiac malformations in some cases. (AU) | |
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