Glycogen Storage Disease

Prize: Bronze Medal

Project Name:

GSD Type 1a Dısease And The Use Of Crıspr Transposase Gene Regulatıon Strategy In Thıs Dısease


GSD 1a, one of the most common types of glycogen storage diseases, is caused by a lack of microsomal glucose-6-phosphate (G6Pase) activity, which catalyzes the final stage of glycogenolysis. The enzyme is normally expressed in the liver, kidney, and intestinal mucosa, and its absence is associated with excess glycogen accumulation in these organs. GSD 1a is a rare autosomal recessively inherited disease. The disease manifests with severe hypoglycemia, hepatomegaly, growth retardation and bleeding diathesis. Many genetic mutations have been identified that cause the glucose 6 phosphatase enzyme to lose its function. Mutations occurring in the catalytic subunit of this enzyme lead to type 1A glycogen storage disease. The catalytic subunit consists of 5 exons. Studies have shown that the structure of the enzyme is mostly affected by the R83C mutation with a ratio of 37%. The R83C mutation occurred with the conversion of the C nucleotide in the 326th region in the second exon to T nucleotide. This mutation caused the transformation of arginine amino acid to cysteine amino acid in the protein structure. This change caused a defect in the structure of the catalytic subunit localized in the endopasmic reticulum (ER) transmembrane of the enzyme. Mutations occurring in the catalytic subunit are not limited to the R83C mutation only. Therefore, based on mutation analysis, we think that focusing on the whole gene rather than on the part of the gene such as the exon or promoter region will be more beneficial in terms of the efficiency and applicability of gene therapy. When we look at these propositions, CRISPR gene editing technology is so important that it cannot be ignored. We will have the chance to capture permanent expression in cells with gene editing technology through the CRISPR transposase process; Additionally applicability in the laboratory will increase and the high cost of treatment will decrease for many sick individuals, especially children, who now have to live with this disease.

Team Member

Burçin İren

Burçin İren

She graduated from Istanbul University, Department of Biology in 2019. She is currently doing my master’s degree at Istanbul University Institute of Science, Department of Basic and Industrial Microbiology.  She works as the deputy chairman of the Solutions for Biologists’ Problems (BSÇ) project. Her areas of interest are microbiology, immunology, renewable energy, and antibacterial effect. Being in science motivates her and he is always ready to work for science with her investigative spirit.

Meysa Kardelen Akan

Meysa Kardelen AKAN

She graduated from Istanbul Yeni Yüzyıl University, Department of Molecular Biology and Genetics in 2020. She is currently actively working as a clinical research coordinator. She works as the assistant secretary general of the Solutions for Biologists’ Problems (BSÇ) project. She is also a writer on KreatifBiri website and works on social media. Being always interested and curious, questioning and researcher in science has always taken him one step ahead.

Şevval Ünal

Şevval Ünal

She started at Yıldız Technical University, Department of Molecular Biology and Genetics in 2018. She is currently continuing his undergraduate education as a 3rd grade. Her areas of interest are molecular biology, microbiology, genetics, rase diseases and biotechnology. She is working diligently for its future goals. She is always open to learning and self-improvement. She has an inquisitive and investigative personality.

Fatih Memiş

Fatih Nejdet MEMİŞ

He graduated from Yıldız Technical University, Department of Molecular Biology and Genetics in 2020. He is the author of the Molekülce website. His areas of interest are cancer metabolism, cancer immunotherapy and P53 protein. He wrote his dissertation on P53 protein and aimed to work on this protein in the future. Thanks to its hardworking and researcher personality, it is taking firm steps towards its future goals.

Yakup Artik

Yakup Artik

He graduated from Genetic Engineering and Bioengineering in 2017. His graduate studies continues in Hacettepe University Institute of Science-CBRN Threats and Management, Erciyes University Institute of Science-Agricultural Biotechnology, Ankara University Institute of Science- Disaster Risk Management Departments. In addition, within the scope of the second university, he graduated from Anadolu University Open Education Faculty Laboratory and Veterinary Medicine in 2020. Also during the Pandemic process, he tasks by Turkey Institute of Medical Sciences (TUSEB) in Kanuni Sultan Süleyman Hospital in Covid Diagnostic Center for diagnosis and identification as project staff expert worked as biologist, genetic engineer and bioengineer. At the same time, he takes significant role in executive board of Turkey Biological Sciences Network (TBBA) and Solutions to Biologist’s Problem and executive committee (BSC) as  Vice President. His areas of interest are Rare Diseases, CBRN Agents, Medical Disaster Risks, Biosafety and Biosecurity, Biotechnology, Molecular Biology and Genetic Engineering and Bioengineering applications. Because of that in the light of interests he had voluntarily taked part in many social projects.