PhD Scientific Days 2020

Molecular Sciences IV. Posters

Large-scale Analysis of Transcriptome Changes Between Patients with Myelodysplastic Syndrome and Healthy Individuals

Előadó neve

Veronika, Vraukó, MSc

Előadó munkahelye

Semmelweis University, 1st Department of Pathology and Experimental Cancer Research, Budapest

Előadó telefonszáma

06-1-459-1500/54475

Előadó e-mail címe

vrauko.veronika@med.semmelweis-univ.hu

Az előadás címe

Large-scale Analysis of Transcriptome Changes Between Patients with Myelodysplastic Syndrome and Healthy Individuals

Szerző(k) neve és munkahelye

Veronika Vraukó1, Péter Szikora2, Alexa Szeifert3, Endre Sebestyén1

1 Semmelweis University, 1st Department of Pathology and Experimental Cancer Research, Budapest
2 Turbine Ltd., Budapest
3 Pázmány Péter Catholic University, Faculty of Information Technology and Bionics, Budapest

Szekció

Molecular Sciences IV. Posters

Language of the presentation

English

Section, first choice

Molecular Sciences

Section, second choice

Pathology and Oncology

Összefoglaló szövege

Our project is focusing on understanding the effect of genetic alterations in myelodysplastic syndrome (MDS) and characterizing the transcriptomic differences between healthy and MDS patients. Myelodysplastic syndromes are a group of hematological disorders, often associated with an abnormal number of blood cells, and an abundance of myeloblasts in the bone marrow and peripheral blood as well. In the early stages of MDS, there are no symptoms, therefore diagnosis has to wait until symptoms appear, and only then treatment can begin. If patients with no symptoms could be distinguishable from healthy patients by transcriptome isoform changes, treatment could start in the early stages of the disease. This would be very important as MDS transforms to acute myeloid leukemia (AML) in 30% of cases.
There are several somatic mutations which can lead to MDS. The most frequently mutated genes are splicing factors, therefore we aimed to look for changes in the splicing isoforms of various gene sets with bioinformatic methods.
We used three datasets from public sources, that contain 123 MDS and 19 controll samples derived from bone marrow. The samples were all CD34+ cells and experiments used total, stranded and paired-end RNA-Seq with the same read length. The analysis was performed with the iso-kTSP program, developed to detect consistent isoform changes between conditions.
However, initially we could not distinguish healthy and MDS groups in an unambiguous manner. Here we show, that a small, but consistent and biological relevant difference exists in isoforms, that we could use in the future to make diagnosis before the development of MDS.
Transcriptomic alterations could be useful biological markers, and they can accelerate diagnosis and treatment by providing invaluable information about the status of patients. Low-cost detection methods, like RT-RCR or similar might be useful, when carried out on blood samples of high-risk patients admitted to the hospital for an independent reason. Detecting transcriptomic alterations in healthy and MDS patients with or without symptoms, would be a further step to personalized medicine, where every patient could get appopriate treatment based on their molecular profile. Moreover, they can also contribute to a better treatment of these diseases as well.

Additional Information

Endre Sebestyén
sebestyen.endre@med.semmelweis-univ.hu

Bemutatás módja

Poszter

Kind

Szabad

Status

elfogadva

Accepted presentation method

poszter

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

4651

Start

12:49

End

12:52

Authors (legacy)

Veronika Vraukó1, Péter Szikora2, Alexa Szeifert3, Endre Sebestyén1

1 Semmelweis University, 1st Department of Pathology and Experimental Cancer Research, Budapest
2 Turbine Ltd., Budapest
3 Pázmány Péter Catholic University, Faculty of Information Technology and Bionics, Budapest