Symptoms
As the body is weakened due to less amount of RBCs, the skin of the child becomes very pale and the child feels fatigued. The child also has low hemoglobin and white blood cells and therefore a very weakened immune system as the result of which the child is prone to infections. The pancreas is affected due to which the child may develop diabetes. They may also suffer from diarrhea and stomach pain. Other organs like eyes, ears, heart, liver, kidney and, in some cases brain, are also affected.
Diagnosis
Several tests like bone marrow biopsy for detection of sideroblastic anemia, urine testing for the presence of organic acids indicating metabolic acidosis and bowel movement sample for assessing the amount of fat in stool are conducted. Ultimately, the condition is confirmed by genetic testing for mutations in mtDNA. While in majority of the cases the deletions in mtDNA causes the syndrome, duplications of mtDNA may also cause symptoms of Pearsons syndrome.
Causes
Change in the mitochondrial DNA, which is the powerhouse of the cell, lead to problems in generation of energy by the cell. Pearson's syndrome is associated with deletions in the mtDNA which results in the loss of genes and hence the subsequent proteins to be made for oxidative phosphorylation. This results in lowered energy supply to the cells.
Treatment
There is no cure for Pearson's syndrome, although, the life expectancy of the children could be increased by various treatments depending on the organ in which symptoms are seen. Children require blood transfusions for healthy RBCs, pancreatic enzyme replacement to help digest food, and insulin injections to help treat diabetes.
Research for treatment of the syndrome is being conducted, some of which is listed below:
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Developing a gene therapy approach to treat mtDNA deletion syndromes by Carlos Moraes.
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Promoting clinical development of Mitochondrial Augmentation Therapy for Pearson Syndrome Patients by Amos Toren, Elad Jacoby, Natalie Yivgi Ohana, Noa Sher, Moriya Blumkin.
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CD34+ cells enriched with blood cells derived healthy mitochondria as a treatment for Pearson Syndrome by Amos Toren, Natalie Yivgi Ohana, Elad Jacoby, Ann Saada.
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Treatments and models for diseases caused by mitochondrial deletions by Michal Minczuk and Payam Gammage.
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Mitochondrial genome editing for Pearson Marrow Pancreas Syndrome by Suneet Agarwal, MD, Ph.D.
More information about the above research can be found at http://www.thechampfoundation.org/research.html