Reetta Hinttala

Reetta Hinttala

Docent

Associate Professor (tenure track)
Molecular and cellular medicine

Biography

I received my PhD degree in studies on mitochondrial complex I deficiencies in the Department of Neurology at the University of Oulu. I carried out my post doctoral studies at Montreal Neurological Institute, McGill University, Canada, in prof. Eric Shoubridge's laboratory as a Marie Skłodowska-Curie Fellow. After returning back to the Oulu University, I worked as an Academy of Finland Research Fellow in the division of pediatric neurology of the PEDEGO research unit at the University of Oulu. In 2018, I started as a coordinator of the Biocenter Oulu Transgenic core facility and the Finnish Infrafrontier/EMMA (European Mouse Mutant Archive) node. Currently, I'm Associate Professor (tenure track) at the Faculty of Medicine, University of Oulu, and I'm focused on studying severe neurological disorders in children. 

Research interests

  • molecular mechanisms behind neurological multiorgan diseases in children
  • mitochondrial diseases
  • tissue fibrosis
  • neurodevelopment
  • rare diseases

Databases

Selected publications

  • Paakkola, Teija; Salokas, Kari; Miinalainen, Ilkka; Lehtonen, Siri; Manninen, Aki; Kaakinen, Mika; Ruddock, Lloyd W; Varjosalo, Markku; Kaarteenaho, Riitta; Uusimaa, Johanna; Hinttala, Reetta (2018) Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease. - Human Molecular Genetics 27 (24), 4288-4302 . [Original]
  • Biterova, Ekaterina; Ignatyev, Alexander; Uusimaa, Johanna; Hinttala, Reetta; Ruddock, Lloyd W. (2018) Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease. - PLoS One 13 (8), e0202391 . [Original] [Self-archived]
  • Uusimaa, Johanna; Kaarteenaho, Riitta; Paakkola, Teija; Tuominen, Hannu; Karjalainen, Minna K.; Nadaf, Javad; Varilo, Teppo; Uusi-Mäkelä, Meri; Suo-Palosaari, Maria; Pietilä, Ilkka; Hiltunen, Anniina E.; Ruddock, Lloyd; Alanen, Heli; Biterova, Ekaterina; Miinalainen, Ilkka; Salminen, Annamari; Soininen, Raija; Manninen, Aki; Sormunen, Raija; Kaakinen, Mika (2018) NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. - Acta Neuropathologica 135 (5), 727-742 . [Original]
  • Rahikkala, Elisa; Myllykoski, Matti; Hinttala, Reetta; Vieira, Päivi; Nayebzadeh, Naemeh; Weiss, Simone; Plomp, Astrid S.; Bittner, Reginald E.; Kurki, Mitja I.; Kuismin, Outi; Lewis, Andrea M.; Väisänen, Marja-Leena; Kokkonen, Hannaleena; Westermann, Jonne; Bernert, Gunther; Tuominen, Hannu; Palotie, Aarno; Aaltonen, Lauri; Yang, Yaping; Potocki, Lorraine (2019) Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). - Genetics in medicine 21 (10), 2355-2363 . [Original]
  • Paakkola, T.; Vuopala, K.; Kokkonen, H.; Ignatius, J.; Valkama, M.; Moilanen, J. S.; Fahiminiya, S.; Majewski, J.; Hinttala, R.; Uusimaa, J. (2018) A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. - Clinical genetics 93 (1), 173-177 . [Original]
  • Diggle, Christine P.; Rizzo, Stacey J. Sukoff; Popiolek, Michael; Hinttala, Reetta; Schülke, Jan-Philip; Kurian, Manju A.; Carr, Ian M.; Markham, Alexander F.; Bonthron, David T.; Watson, Christopher; Sharif, Saghira Malik; Reinhart, Veronica; James, Larry C.; Vanase-Frawley, Michelle A.; Charych, Erik; Allen, Melanie; Harms, John; Schmidt, Christopher J.; Ng, Joanne; Pysden, Karen (2016) Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. - American journal of human genetics 98 (4), 735-743 . [Original]
  • Hautakangas, Milla-Riikka; Hinttala, Reetta; Rantala, Heikki; Nieminen, Pentti; Uusimaa, Johanna; Hassinen, Ilmo E. (2016) Evaluating clinical mitochondrial respiratory chain enzymes from biopsy specimens presenting skewed probability distribution of activity data. - Mitochondrion 29, 53-58 . [Original]
  • Hinttala, Reetta; Sasarman, Florin; Nishimura, Tamiko; Antonicka, Hana; Brunel-Guitton, Catherine; Schwartzentruber, Jeremy; Fahiminiya, Somayyeh; Majewski, Jacek; Faubert, Denis; Ostergaard, Elsebet; Smeitink, Jan A.; Shoubridge, Eric A. (2015) An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase. - Human Molecular Genetics 24 (14), 4103-4113
  • Komulainen, Tuomas; Lodge, Tiffany; Hinttala, Reetta; Bolszak, Maija; Pietila, Mika; Koivunen, Peppi; Hakkola, Jukka; Poulton, Joanna; Morten, Karl J.; Uusimaa, Johanna (2015) Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model. - Toxicology 331, 47-56