Finnish Study reveals a new gene required for normal fetal development

March 13, 2018

A new multi-organ disease named FINCA (Fibrosis, Neurodegeneration and Cerebral Angiomatosis) that is fatal in early childhood has been identified in three pediatric patients in Finland. Children affected have previously undescribed formation of connective tissue in the lungs, neurodegeneration and increased vasculature formation in the brain.

A study made at Oulu University in Finland has found for the first time mutations in the NHLRC2 gene of the FINCA patients. Using genetically modified mouse and zebra fish models, the team discovered that the NHLRC2 protein is vital for normal fetal development and maintenance of multi-organ homeostasis. To reveal the so far unknown functions of NHLRC2 the researchers used the mouse strain EM:10219 provided by INFRAFRONTIER´s EMMA repository.

The patients in Northern Finland have globally unique genetic background, which enables the identification of novel recessive diseases and their causative mutations in the genes with previously unknown functions.

The study was carried out at Oulu University by Johanna Uusimaa, Professor of Pediatric Neurology, and Reetta Hinttala, Docent and Academy Research Fellow, together with their research team and a great number of collaborators. Most of the researchers involved in the study work at the Oulu University Hospital, at the Biocenter Oulu and the Medical Research Center Oulu. In addition, researchers from the Universities of Tampere and Helsinki, the McGill University of Canada and the Johns Hopkins University in the USA participated in the research.

The results of the study were published on February 8, 2018 in the journal Acta Neuropathologica, edited by Springer Nature – one of the most prestigious journals in the field of neurological sciences.

Original publication:
Uusimaa, J. et al. (February 2018): NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

Docent Reetta Hinttala

Tel: 050 350 2728

Professor Johanna Uusimaa

Used mouse strain:
EM:10219, EMMA repository

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