Molecular characterisation of SGCE-associated myoclonus-dystonia ...

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Molecular characterisation of SGCE-associated myoclonus-dystonia ...

List of figures

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LIST OF FIGURES

Fig 1 Projects and levels of investigation in the present thesis. ......................................... 1

Fig 2 Scheme of neuronal traces in the basal ganglia for motor control. .......................... 2

Fig 3 Potential connection between environmental and genetic factors, and PD............ 17

Fig 4 Pedigree of Family W. ............................................................................................. 22

Fig 5 Principle of the MLPA analysis............................................................................... 33

Fig 6 Scheme to illustrate the apparatus used to determine GSH by reverse-phase HPLC

and electrochemical detection. ................................................................................ 35

Fig 7 Projects and levels of investigation in the present thesis [Project A]..................... 46

Fig 8 (previous page) Relevant pedigrees of families with M-D of index patients (A)

IP15916; (B) IP16535; (C) IP15624; (D) IP15251 and (E) IP2141. ..................... 50

Fig 9 (previous page) Screening for exon rearrangements. ............................................. 52

Fig 10 Scheme of the genomic region, surrounding SGCE, with relevant markers and

qPCRs. ..................................................................................................................... 53

Fig 11 Schematic representation of the SGCE gene and identified mutations. .................. 55

Fig 12 Projects and levels of investigation in the present thesis [Project B]..................... 56

Fig 13 Electropherograms of genomic DNA and cDNA..................................................... 57

Fig 14 PINK1 haplotype analysis. ...................................................................................... 58

Fig 15 Histograms displaying results of the quantitative PINK1 mRNA analysis.............. 59

Fig 16 Box-and-Whisker Plot showing clustered results of the mRNA expression analysis

for each mutational status in Family W................................................................... 60

Fig 17 The human PINK1 gene and identified mutations................................................... 61

Fig 18 Projects and levels of investigation in the present thesis [Project C]..................... 62

Fig 19 Respiratory chain enzyme complexes I-IV............................................................... 63

Fig 20 Mitochondria content and mtDNA levels. ............................................................... 64

Fig 21 Protein expression of the respiratory chain enzyme complexes.............................. 65

Fig 22 Membrane potential under basal and stress conditions.......................................... 66

Fig 23 ATP levels under normal conditions........................................................................ 66

Fig 24 Indicators of oxidative stress................................................................................... 67

Fig 25 Mitochondrial network in primary fibroblasts. ....................................................... 68

Fig 26 Mitochondrial morphology in fibroblasts................................................................ 69

Fig S1 Determination of the optimal number of control genes for normalization............ 112

Fig S2 Average expression stability values (M) of reference genes calculated by the

geNorm VBA applet. .............................................................................................. 112

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