Researchers have found that a mutation in specific tumor suppressor gene could be one of the possible causes why children develop myelodysplastic syndrome (MDS). MDS exists in children with the rare genetic disorder and is a general term for bone marrow disorder.
The study was headed by Prof. Dr. Annette Grüter-Kieslich, head of the Department of Pediatric Endocrinology and Diabetology. Normally, a person has two copies of each of the 23 chromosomes; however, the researchers discovered that children with MDS have lost one copy of chromosome 7. According to Medical Xpress, the discovery could be a potential trigger in bone marrow disorder.
The researchers studied a total of seven children suffering from similar symptoms; congenital adrenal insufficiency, gonadal failure, and severe pulmonary infections. Through innovative genetic testing methods, the study discovered mutations in a tumor suppression gene known as SAMD9, located on chromosome 7. Additional testing also concluded that these inherited mutations were responsible for the children's bone marrow disorder.
Furthermore, the mutation is also identified to be the cause of MDS and monosomy 7. It is a selective advantage when bone marrow cells have lost the mutated chromosome 7, as stated by Prof. Dr. Annette Grüter-Kieslich. She also added that, in patients with the malignant syndrome, the complete or partial loss may represent a mechanism towards eliminating genetic effects.
Meanwhile, as reported by Medline Plus, the cause bone marrow disorder includes genetics and environmental factors. Bone marrow contains stem cells which develop into red blood cells that are essential is carrying oxygen in the systemic circulation. Stem cells also develop into white blood cells that help fight infection, and platelets or thrombocytes that are essential in blood clotting.
Bone marrow disorders occur when there is an abnormality in the production of blood cells such as RBC, WBC, and platelets. Symptoms of the disorder vary according to the degree of severity which includes; bone pain such as aching of joints, swelling of internal organs, and chromosomal changes.
