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Congenital hypothyroidism: in vivo functional validation of the new candidate-gene CCDC for thyroid hemiagenesis

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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Scientific publications (4)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
SIVIERO-MIACHON, ADRIANA A.; KIZYS, MARINA M. L.; RIBEIRO, MANUELA M.; GARCIA, FABIOLA ESGRIGNOLI; SPINOLA-CASTRO, ANGELA M.; DIAS DA SILVA, MAGNUS R.. Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis. ENDOCRINE RESEARCH, v. 42, n. 2, p. 117-124, . (06/60402-1, 12/01628-0, 14/15948-2, 11/20747-8)
RADONSKY, VANESSA; KIZYS, MARINA MALTA LETRO; DOTTO, RENATA PIRES; ESPER, PRISCILA LIGEIRO GONCALVES; HEILBERG, ITA PFEFERMAN; DIAS-DA-SILVA, MAGNUS REGIOS; LAZARETTI-CASTRO, MARISE. Hypomagnesemia with Hypercalciuria Leading to Nephrocalcinosis, Amelogenesis Imperfecta, and Short Stature in a Child Carrying a Homozygous Deletion in theCLDN16Gene. CALCIFIED TISSUE INTERNATIONAL, v. 107, n. 4, . (14/15948-2, 12/01628-0, 14/06570-6)
KIZYS, MARINA M. L.; LOUZADA, RUY A.; MITNE-NETO, MIGUEL; JARA, JESSICA R.; FURUZAWA, GILBERTO K.; DE CARVALHO, DENISE P.; DIAS-DA-SILVA, MAGNUS R.; NESI-FRANCA, SUZANA; DUPUY, CORINNE; MACIEL, RUI M. B.. DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 102, n. 11, p. 4060-4071, . (12/00079-3, 12/01628-0, 14/15948-2)
DE SOUZA, JANAINA SENA; LETRO KIZYS, MARINA MALTA; DA CONCEICAO, RODRIGO RODRIGUES; GLEBOCKI, GABRIEL; ROMANO, RENATA MARINO; ORTIGA-CARVALHO, TANIA MARIA; GIANNOCCO, GISELE; COTRIM GUERREIRO DA SILVA, ISMAEL DALE; DIAS DA SILVA, MAGNUS REGIOS; ROMANO, MARCO AURELIO; et al. Perinatal exposure to glyphosate-based herbicide alters the thyrotrophic axis and causes thyroid hormone homeostasis imbalance in male rats. Toxicology, v. 377, p. 25-37, . (12/01628-0, 14/06834-3, 14/15948-2, 13/26851-7)

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