Characterization of molecular changes in patients with aceruloplasminemia

• Grant number: 16/08072-9
• Support Opportunities: Scholarships in Brazil - Master
• Start date: July 01, 2016
• End date: May 31, 2018
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Kleber Yotsumoto Fertrin
• Grantee: Marina Dorigatti Borges
• Host Institution: Centro de Hematologia e Hemoterapia (HEMOCENTRO). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Associated research grant: 14/00984-3 - Red blood cell disorders: pathophysiology and new therapeutic approaches, AP.TEM

Abstract

Aceruloplasminemia is an autosomal recessive inherited disease that leads to the accumulation of iron in the brain. Diagnosis of the disease is made with the absence of serum ceruplasmina detection associated with neuroimaging tests suggestive of iron overload in the brain, usually associated with other laboratory abnormalities, such as high levels of ferritin, light microcytic and low serum iron. For being a progressive neurodegenerative disease, early diagnosis and treatment are key. Due to its rarity, aceruloplasminemia symptoms are easily interpreted individually as isolated illnesses (diabetes, iron deficiency anemia, Parkinsonism), and most patients are not diagnosed quickly and delay in getting an effective treatment. This project aims to characterize the molecular changes that lead to aceruloplasminemia in patients diagnosed with the disease at the Hematology Center of Unicamp. (AU)

Scientific publications

(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)

BORGES, MARINA DORIGATTI; DE ALBUQUERQUE, DULCINEIA MARTINS; LANARO, CAROLINA; COSTA, FERNANDO FERREIRA; FERTRIN, KLEBER YOTSUMOTO. Clinical relevance of heterozygosis for aceruloplasminemia. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, v. 180, n. 4, p. 266-271, JUN 2019. (16/08072-9, 14/00984-3)

VILA CUENCA, MARC; MARCHI, GIACOMO; BARQUE, ANNA; ESTEBAN-JURADO, CLARA; MARCHETTO, ALESSANDRO; GIORGETTI, ALEJANDRO; CHELBAN, VIORICA; HOULDEN, HENRY; WOOD, NICHOLAS W.; PIUBELLI, CHIARA; et al. Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v. 21, n. 7, APR 2020. (16/08072-9, 14/00984-3)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

BORGES, Marina Dorigatti. Characterization of molecular changes in patients with aceruloplasminemia. 2018. Master's Dissertation - Universidade Estadual de Campinas (UNICAMP). Faculdade de Ciências Médicas Campinas, SP.