The present dissertation project has been performed at the “Klinik für Pädiatrie mit Schwerpunkt Neurologie” (Director: Prof. Dr. C. Hübner) of the Medical Faculty Charité of the Humboldt-University Berlin and in collaboration with the SFB 577 (Partial project TP4 Genetic variability of mitochondrial disorders)at the “Institut für Humangenetik der Charité” (Director: Prof. Dr. K. Sperling). I thank both directors for the opportunity to work and study in their laboratories.

I would like to express my gratitude to the Friedrich-Ebert-Stiftung and to Ms Holona who provided the opportunity for me to come to Germany and supported me financially for the last three years.

I would also like to show my sincere respect and thankfulness to PD Dr. Markus Schuelke for the supervision of this work. His kindness, patience, thoughtfulness, continuous support and encouragement made this work a reality. Moreover, under his guidance I also comprehended the spirit of research and discovery, which I will benefit my future work.

I thank Dipl. Ing. Sandra Techritz for the introduction into the field of MALDI-TOF mass spectrometry and her kind co-operation for protein identification. I thank for her patience and warm-hearted help, especially for the inspired discussions and her suggestions. My thanks also go to Dr. Sophie Häbel for the fruitful co-operation, in whose lab the MALDI-TOF-MS and MALDI-QTOF-MS measurements were performed.

Furthermore, I am grateful to all the members of Professor Dr. Dr. J. Klose’s group for their friendly help. Especially I thank Yvonne Kläre for her patient and clear introduction into the 2D-electrophoresis techniques. I would also like to show my deep respect to Professor Dr. Dr. J. Klose himself for his guidance in the field of 2D-electrophoresis and his valuable suggestions.

I would like to acknowledge the contribution of Antje Gerlach and PD Dr. Heidemarie Neitzel, who performed the cultivation of EBV-transformed lymphoblastoid cell lines.

I also like to thank Petra Schrade at Prof. Dr. S. Bachmann’s laboratory who contributed all the electron microscopic photographs presented in this work.

I like to thank Anke Horn and Angelika Zwirner for their excellent technical assistance.

I acknowledge all my colleagues and friends for their useful advice and support throughout the work. Special thanks go to my best friends Christine Gerstenfeld and Lei Mao, whose warm-hearted help and support are never forgot through my life.

Finally, I would like to show my deep love and gratitude to my family, my parents and parents-in-law. Their immense love, encouragement and support animated me to finish this work.

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