SzSA YearBook 2018/19

SZENT-GYÖRGYI JUNIOR MENTORS
KORNÉLIA TRIPOLSZKI
University of Szeged,
Department of Medical Genetics
Address: Somogyi u 4., H-6720 Szeged, Hungary
RESEARCH AREA
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative
disease characterised by the degeneration
of upper and lower motor neurons in the motor cortex,
brain stem, and spinal cord with life expectancy of 3-5
years from symptom onset. This disease is being studied
worldwide to better understand the mechanisms of the
disease and develop better methods for detection and
intervention. Familial forms account for about 5-10% of ALS
cases, although higher levels have been reported in certain
geographical regions. Regarding its genetic background,
more than 20 major genes have been implicated in the
Mendelian ALS forms and further about 100 genes have
been associated as predisposing factors, however the
exact cause is still unknown. Genetic factors play a key
role in all types of ALS, therefore, the goal of the project
is to investigate disease causing genes in order to identify
causative mutations in Hungarian patients with ALS. We
are using various PCR and sequencing techniques in our
investigations. Our study provides further insight into the
genetic etiology of this heterogenous disease.
TECHNIQUES AVAILABLE IN THE LAB
SELECTED PUBLICATIONS
Tripolszki, K., Csányi, B., Nagy, D., Ratti, A., Tiloca, C., Silani,
V., Kereszty, É., Török, N., Vécsei, L., Engelhardt, J.I., Klivényi,
P., Nagy, N., Széll, M. (2017) Genetic analysis of the SOD1 and
C9ORF72 genes in Hungarian patients with amyotrophic
lateral sclerosis. Neurobiol Aging 53: 195.e1-195.e5.
Tripolszki, K., Török, D., Goudenège, D., Farkas, K., Sulák,
A., Török, N., Engelhardt, J.I., Klivényi, P., Procaccio, V.,
Nagy, N., Széll, M. (2017) High-throughput sequencing
revealed a novel SETX mutation in a Hungarian patient with
amyotrophic lateral sclerosis. Brain Behav 7: e00669.
Tripolszki, K., Knox, R., Parker, V., Semple, R., Farkas, K., Sulák,
A., Horváth, E., Széll, M., Nagy, N. (2016) Somatic mosaicism
of the PIK3CA gene identified in a Hungarian girl with
macrodactyly and syndactyly. Eur J Med Genet 59: 223-6.
Tripolszki, K., Farkas, K., Sulák, A., Szolnoky, G., Duga, B.,
Melegh, B., Knox, R.G., Parker, V.E.R., Semple, R.K., Kemény,
L., Széll, M., Nagy, N. (2017) Atypical neurofibromatosis type
1 with unilateral limb hypertrophy mimicking overgrowth
syndrome. Clin Exp Dermatol 42: 763-766.
IDNA extraction (blood and tissue samples), DNA
quantitation (NanoDrop spectrophotometer and Quantus
fluorometer), primer design, different PCR techniques
(Repeat-Primed PCR, Real-Time PCR, Digital PCR), agarose gel
electrophoresis, Sanger sequencing and amplicon fragment
length analysis. Next generation sequencing (target region/
panel and exome sequencing) and bioinformatic analysis
of NGS data. Clinical and mutation database management
and variant effect prediction.
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