Altered expression ofPGK1in a family with phosphoglycerate kinase deficiency
| Autor: | Helge Klungland, Veslemøy Malm Landsem, Jan O. Aasly, Eva K. Svaasand |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Male
Hemolytic anemia medicine.medical_specialty Physiology DNA Mutational Analysis Biology Gene Expression Regulation Enzymologic Cellular and Molecular Neuroscience Exon Transcription (biology) Physiology (medical) Internal medicine medicine Humans RNA Messenger Allele Myopathy Gene Family Health Messenger RNA Phosphoglycerate kinase Genetic Diseases X-Linked Exons medicine.disease Phosphoglycerate Kinase Endocrinology Mutation Female Neurology (clinical) medicine.symptom |
| Zdroj: | Muscle & Nerve. 36:679-684 |
| ISSN: | 1097-4598 0148-639X |
| DOI: | 10.1002/mus.20859 |
| Popis: | The X-linked recessive disease phosphoglycerate kinase (PGK) deficiency is caused by altered expression of the PGK1 enzyme, which causes muscle stiffness, hemolytic anemia, and mental retardation. In this study we characterized the PGK1 gene in a family of two brothers, two sisters, and their parents. A single mutation in exon 6, which was associated with the pattern of inheritance of PGK1 deficiency, was observed. This silent G213G; c.639C>T mutation was localized to the conserved exon-intron boundary. We have developed a method for quantification of PGK1 mRNA and demonstrated a marked reduction in PGK1 mRNA in both brothers with the disease. A smaller decrease in PGK1 expression was observed in one sister with symptoms of PGK deficiency and in her mother. Only the normal PGK1 allele was expressed in the two heterozygous women. Whereas most known PGK1 mutations cause amino acid alterations, our study indicates that inhibition of the transcription mechanism is the cause of PGK deficiency. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text