Functional and Molecular Genetics


Saila Vepsäläinen
Research Fellow, PhD

University of Eastern Finland
Institute of Clinical Medicine / Neurology
P.O.Box 1627 (Yliopistonranta 1C)
FI-70211 Kuopio
Finland

+358-(0)40-3553214
saila.vepsalainen( at )uef.fi

Major Research Interest

  • Identification of novel risk genes in Alzheimer’s disease
  • Functional characterization of  genes involved in pathways related to Alzheimer’s disease in vitro and in vivo
  • Characterization of neuroprotective effects of bioactive compounds from blackcurrant on the pathogenic pathways relevant for Alzheimer’s disease

Research Methods

Molecular and cell biological methods (cell culture of secondary and primary cells, mRNA analyses, protein expression analyses, enzyme activity measurements, overexpression and downregulation of genes, and in vivo studies using transgenic mouse model of Alzheimer’s disease) as well as molecular genetics methods (SNPing, sequencing, quantitative PCR and statistical analyses).

Academic Degrees

  • PhD, Faculty of Medicine, University of Kuopio, Finland, 2007
    Doctoral Thesis: A molecular Genetic Study and Expression-Based Analysis of risk Factors of Alzheimer`s Disease. Emphasis on Aβ-degrading Enzymes, IDE and NEP >pdf<
  • MSc, Faculty of Science, University of Joensuu, Finland, 2002

Major Positions

  • Research Fellow: Molecular and Functional Genetics, University of Eastern Finland, Institute of Clinical Medicine, Neurology, 2010-
  • Research Fellow: Molecular and Functional Genetics, University of Kuopio, Institute of Clinical Medicine, Neurology, 2007-2010
  • PhD student: Genetics, University of Kuopio, Brain Research Unit, Clinical Research Centre, Neurology, 2002-2007

Selected Publications 

Genome-wide association study identifies variants at CLU and CRI associated with Alzheimer’s disease. Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fiévet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O, European Alzheimer's Disease Initiative Investigators*, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanché H, Fatigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P. (* = Beatrice Arosio, Eliecer Coto, Maria Del Zompo, Vincent Deramecourt, Jacques Epelbaum, Paola Forti, Alexis Brice, Raffaele Ferri, Elio Scarpini, Gabriele Siciliano, Vincenzo Solfrizzi, Sandro Sorbi, Gianfranco Spalletta, Giovanni Ravaglia, José Sahel, Fernando Valdivieso, Saila Vepsäläinen, Alberto Pilotto) Nat Genet. 2009, 41(10): 1094-9.

Combined risk effects of IDE and NEP gene variants on Alzheimer's disease. Vepsäläinen S, Helisalmi S, Mannermaa A, Pirttila T, Soininen H and Hiltunen M. J Neurol Neurosurg Psychiatry. 2009, 80(11) 1268-70.

Increased expression of Abeta degrading enzyme IDE in the cortex of transgenic mice with Alzheimer's disease-like neuropathology. Vepsäläinen S, Hiltunen M, Helisalmi S, Wang J, van Groen T, Tanila H, Soininen H. Neurosci Lett. 2008, 20;438(2):216-20.    
 
Genetic study evaluating LDLR polymorphisms and Alzheimer's disease. Lämsä R, Helisalmi S, Herukka SK, Tapiola T, Pirttila T, Vepsäläinen S, Hiltunen M, Soininen H. Neurobiol Aging. 2008, 29(6):848-55.

Insulin-degrading enzyme is genetically associated with Alzheimer's disease in the Finnish population. Vepsäläinen S, Parkinson M, Helisalmi S, Mannermaa A, Soininen H, Tanzi RE, Bertram L, Hiltunen M. J Med Genet. 2007, 44(9):606-8.

Somatostatin genetic variants modify the risk for Alzheimer`s disease among Finnish patients. Vepsäläinen S, Helisalmi S, Koivisto A M, Tapaninen T, Hiltunen M, Soininen H. J  Neurol. 2007, 254(11):1504-8.

The association study between DHCR24 polymorphisms and Alzheimer's disease. Lämsä R, Helisalmi S, Hiltunen M, Herukka SK, Tapiola T, Pirttila T, Vepsäläinen S, Soininen H. Am J Med Genet B Neuropsychiatr Genet. 2007, 144B(7):906-10.

Association of CYP46 intron 2 polymorphism in Finnish Alzheimer's disease samples and a global scale summary. Helisalmi S, Vepsäläinen S, Koivisto AM, Mannermaa A, Iivonen S, Hiltunen M, Kiviniemi V, Soininen H. J Neurol Neurosurg Psychiatry. 2006, 77(3):421-2.

Genetic analysis of BDNF and TrkB gene polymorphisms in Alzheimer's disease. Vepsäläinen S, Castren E, Helisalmi S, Iivonen S, Mannermaa A, Lehtovirta M, Hanninen T, Soininen H, Hiltunen M. J Neurol. 2005, 252(4):423-8.

Role of alpha-synuclein in presynaptic dopamine recruitment. Yavich L, Tanila H, Vepsäläinen S, Jäkälä P. J Neurosci. 2004, 8;24(49):11165-70.

Polymorphisms in neprilysin gene affect the risk of Alzheimer's disease in Finnish patients. Helisalmi S, Hiltunen M, Vepsäläinen S, Iivonen S, Mannermaa A, Lehtovirta M, Koivisto AM, Alafuzoff I, Soininen H. J Neurol Neurosurg Psychiatry. 2004, 75(12):1746-8.