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Novel plasminogen gene mutations in Turkish patients with type I plasminogen deficiency
Buket Dönmez-Demir1, Tiraje Celkan, Nazan Sarper
1aBiotechnology Institute, Ankara University, Ankara bDepartment of Pediatrics, İstanbul University, Cerrahpaşa Faculty of Medicine, İstanbul cDepartment of Pediatric Hematology, Kocaeli University Faculty of Medicine, Kocaeli dDepartment of Pediatric Neurology eDepartment of Pediatric Hematology, Ankara University Faculty of Medicine, Ankara fDepartment of Pediatrics, Necmettin Erbakan University Meram Faculty of Medicine, Konya gDepartment of Pediatrics, İstanbul Faculty of Medicine, İstanbul hDepartment of Pediatric Hematology, Çukurova University Faculty of Medicine, Adana iDepartment of Pediatrics, Akdeniz University Faculty of Medicine jDepartment of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey.
Abstract:
The plasminogen (Plg) protein is the inactive proenzyme form of plasmin that dissolves fibrin thrombi by a process called fibrinolysis. It has been shown that homozygous or compound-heterozygous deficiency of this protein is a major cause of a rare inflammatory disease affecting mainly mucous membranes found in different body sites. In this study, five individual Turkish patients and nine Turkish families with type 1 Plg deficiency were investigated for PLG gene mutations. All of the coding regions of the PLG gene mutations were screened for mutations using denaturing high-pressure liquid chromatography (DHPLC). Samples showing a different DHPLC profile were subjected to DNA sequencing analysis. Here, we described five novel mutations namely, Cys49Ter, +1 IVS6 G>A, Gly218Val, Tyr283Cys, and Gly703Asp. Previously identified five nonsynonymous (Lys38Glu, Glu180Lys, Gly420Asp, Asp453Asn, Pro763Ser), five synonymous (330 C>T, 582 C>T, 771 T>C, 1083 A>G, 2286 T>G), and a 3' untranslated region (3' UTR) mutation (c.*45 A>G) were also reported in this present study. In this study, we have identified a total of eight mutations, five of which are novel. The mutations/polymorphisms identified in eight of the patients do not explain the disease phenotype. These cases probably carry other pathological mutations (homozygous or compound heterozygous) that cannot be detected by DHPLC.
Insights
Researchers investigated plasminogen (Plg) deficiency in Turkish families, identifying five novel PLG gene mutations. However, these mutations did not fully explain the disease in all patients, suggesting other genetic factors.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Plasminogen (Plg) is crucial for fibrinolysis, dissolving blood clots.
- Deficiency in Plg is linked to a rare inflammatory disease affecting mucous membranes.
- Understanding PLG gene mutations is vital for diagnosing and managing this condition.
Purpose of the Study:
- To identify mutations in the PLG gene in Turkish patients with type 1 Plg deficiency.
- To characterize novel and previously identified mutations associated with the disease.
Main Methods:
- Screening of all coding regions of the PLG gene for mutations using denaturing high-pressure liquid chromatography (DHPLC).
- DNA sequencing analysis for samples with altered DHPLC profiles.
- Investigation of five individual patients and nine families of Turkish origin.
Main Results:
- Identified a total of eight mutations in the PLG gene, including five novel mutations (Cys49Ter, +1 IVS6 G>A, Gly218Val, Tyr283Cys, Gly703Asp).
- Confirmed previously reported nonsynonymous, synonymous, and 3' UTR mutations.
- Found that identified mutations/polymorphisms did not fully explain the disease phenotype in eight patients.
Conclusions:
- Novel PLG gene mutations contributing to type 1 Plg deficiency have been identified in the Turkish population.
- The genetic basis of Plg deficiency is complex, with potential for undetected mutations (homozygous or compound heterozygous) in some patients.
- Further investigation is needed to elucidate the complete genetic etiology in cases where identified mutations do not correlate with the phenotype.
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