JOURNAL ARTICLE
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
American Journal of Human Genetics 1996 July
Phosphofructokinase (PFK) plays a major role in glycolysis. Human PFK is composed of three isoenzyme subunits (muscle [Ml, liver [L], and platelet [P]), which are encoded by different genes. Deficiency of muscle isoenzyme (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome. Several disease-causing mutations have been identified in the PFK-M gene in Japanese, Ashkenazi Jewish, Italian, French Canadian, and Swiss patients. We describe the genetic defect in a Swedish family with affected individuals in two generations. The patients are compound heterozygotes: two different mutations result in retention of intron 13 or intron 16 sequences into mRNA. A G1127A transition destroys the 5' donor site of intron 13, resulting in a 155-nt retention of the intronic sequence. An a-to-g base change in intron 16 creates a new acceptor splice site, resulting in a 63-nt retention of intronic sequence. Both mutations are predicted to result in premature termination of translation. Some of the transcripts generated from the intron 16 mutated allele also contain intron 10 sequence unspliced.
Full text links
Trending Papers
Fluid Resuscitation in Patients with Cirrhosis and Sepsis: A Multidisciplinary Perspective.Journal of Hepatology 2023 March 2
Glucagon-Like Peptide 1 Receptor Agonists Versus Sodium-Glucose Cotransporter 2 Inhibitors for Atherosclerotic Cardiovascular Disease in Patients With Type 2 Diabetes.Cardiology Research 2023 Februrary
Management of Heart Failure With Preserved Ejection Fraction in Elderly Patients: Effectiveness and Safety.Curēus 2023 Februrary
Evaluation and Management of Pulmonary Hypertension in Noncardiac Surgery: A Scientific Statement From the American Heart Association.Circulation 2023 March 17
What's New in the Treatment of Non-Alcoholic Fatty Liver Disease (NAFLD).Journal of Clinical Medicine 2023 Februrary 27
Physical interventions to interrupt or reduce the spread of respiratory viruses.Cochrane Database of Systematic Reviews 2023 January 31
Long COVID: major findings, mechanisms and recommendations.Nature Reviews. Microbiology 2023 January 14
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
Read by QxMD is copyright © 2021 QxMD Software Inc. All rights reserved. By using this service, you agree to our terms of use and privacy policy.
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app