Finland Helsinki

Mitochondrial Clinical & Research Network (MCRN)

A multinational collaboration of experts on mitochondrial disease

Helsinki

Pirjo Isohanni, MD, PhD is working as a pediatric neurologist in Children’s Hospital, Helsinki University Hospital, and researcher in Anu Suomalainen Wartiovaara’s group, Research Programs Unit, University of Helsinki, with special expertise on childhood-onset mitochondrial diseases.

Contact: Pirjo Isohanni

Department of Pediatric Neurology

Children’s Hospital

Helsinki University Hospital

P.O.Box 280

FIN-00029 HUS, Helsinki, Finland

email: pirjo.isohanni@helsinki.fi

Tuula Lönnqvist, MD, PhD, Ass. professor is a Child Neurologist and Researcher in the Children's Hospital, Helsinki University Hospital and University of Helsinki

PO BOX 280

FIN-00029 HUS, Helsinki, Finland

email: tuula.lonnqvist@hus.fi

Research interest: Childhood onset mitochondrial disorders, special interest in early onset ataxias and polyneuropathies.

Jenni Lehtonen, MD

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The group's five latest publications:

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.

Cooper HM, Yang Y, Ylikallio E, Khairullin R, Woldegebriel R, Lin KL, Euro L, Palin E, Wolf A, Trokovic R, Isohanni P, Kaakkola S, Auranen M, Lönnqvist T, Wanrooij S, Tyynismaa H.

Hum Mol Genet. 2017 Jan 31. doi: 10.1093/hmg/ddx042. [Epub ahead of print]

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.

Lehtonen JM, Forsström S, Bottani E, Viscomi C, Baris OR, Isoniemi H, Höckerstedt K, Österlund P, Hurme M, Jylhävä J, Leppä S, Markkula R, Heliö T, Mombelli G, Uusimaa J, Laaksonen R, Laaksovirta H, Auranen M, Zeviani M, Smeitink J, Wiesner RJ, Nakada K, Isohanni P, Suomalainen A.

Neurology. 2016 Nov 29;87(22):2290-2299.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW.

Am J Hum Genet. 2016 Oct 6;99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014.

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.

Linnankivi T, Neupane N, Richter U, Isohanni P, Tyynismaa H.

Hum Mutat. 2016 Sep;37(9):884-8. doi: 10.1002/humu.23021.

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.

Nikkanen J, Forsström S, Euro L, Paetau I, Kohnz RA, Wang L, Chilov D, Viinamäki J, Roivainen A, Marjamäki P, Liljenbäck H, Ahola S, Buzkova J, Terzioglu M, Khan NA, Pirnes-Karhu S, Paetau A, Lönnqvist T, Sajantila A, Isohanni P, Tyynismaa H, Nomura DK, Battersby BJ, Velagapudi V, Carroll CJ, Suomalainen A.

Cell Metab. 2016 Apr 12;23(4):635-48. doi: 10.1016/j.cmet.2016.01.019.