Group Jalanko

The research group is devoted to developing models to study molecular mechanisms behind neurodegeneration. Our previous work has concentrated on utilization of cell and mouse models to analyze disease mechanisms behind lysosomal storage diseases affecting the central nervous system: Aspartylglucosaminuria (AGU) and neuronal ceroid lipofuscinoses (NCL), including infantile, variant late infantile and juvenile diseases (INCL, vLINCLFin, JNCL). More recently, we have been able to reveal the first functional properties of the NCL-proteins and this work is being continued.  NCL involves mutations in ion channel – transporter type of membrane proteins, offering synergy with the functional analyses of epilepsy.  The NCL disorders are monogenic but as a group can be utilized as a model to tackle complex functional mechanisms and gene interplay. We have generated and initially characterized knock-out mouse models for NCL. These mouse models will be utlilized for novel genome-wide expression analyses, brain imaging and biocomputing, to reveal mechanisms in CNS diseases. The group will further be responsible for the operations of the mouse core of CECDG. The group shares significant research interest with the group Peltonen, to utilize genome-wide analysis methods for the analysis of gene function and Lehesjoki, to analyze molecular mechanisms of neurodegeneration.

Lehtovirta, M., Kyttälä, A., Eskelinen, E-L., Hess, M., Heinonen, O., Jalanko, A. Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: Implications for infantile neuronal ceroid lipofuscinosis (INCL). Hum. Mol. Genet., 10:1:69-75, 2001.

Luiro, K., Kopra, O., Lehtovirta, M., Jalanko, A. CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: New clues to Batten disease. Hum. Mol. Genet. 10:2123-2131, 2001.

Kopra O, Vesa J, von Schantz C,  Manninen T, Minye H, Fabritius A-L, Rapola J, vanDiggelen O, Saarela J, Jalanko A, Peltonen L. A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. Hum. Mol. Genet. 13:2893-2906, 2004.

Luiro K, Yliannala K, Ahtiainen L, Maunu H, Järvelä I, Kyttälä A,  Jalanko A Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. Hum. Mol. Genet.13: 3017-3027, 2004.