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Whole Mitochondrial DNA sequencing for diagnosis of hereditary optic neuropathy LEBER (LHON)

Grant number: 14/10188-0
Support type:Regular Research Grants
Duration: March 01, 2016 - February 28, 2018
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Edi Lúcia Sartorato
Grantee:Edi Lúcia Sartorato
Home Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Assoc. researchers:José Paulo Cabral de Vasconcellos


The main goal is to perform the complete sequencing of the mitochondrial genome in Brazilian patients ( with clinical symptoms of LHON and optic neuropathy of unknown etiology ) . The specific objectives are : To investigate the frequency of secondary mutations , making the phenotype / genotype correlation and explain the variable expression of this condition ; research the haplogroups of patients with molecular changes , and determine new variants related to optic neuropathy . Approximately 100 patients will be evaluated clinically affected by LHON ( 66 cases ) or optic neuropathy of unknown etiology ( 34 individuals ) . In patients who do not submit primary mutations , catches of target genes and Massive Parallel Sequencing will be performed with the Agilent SureSelect Kit using the Illumina HiSeq 2000 platform . This work is expected to obtain the spectrum of mutations related to LHON present in our population , allowing them to optimize molecular diagnostic tests with a view to prognosis , treatment and genetic counseling . (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)
ARROJO MARTINS, FABIO TADEU; DO AMOR DIVINO MIRANDA, PAULO MAURICIO; AMARAL FERNANDES, MARCELA SCABELLO; MACIEL-GUERRA, ANDREA TREVAS; SARTORATO, EDI LUCIA. Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON). MOLECULAR VISION, v. 23, JUL 21 2017. Web of Science Citations: 1.

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