Pyruvate kinase M2 (PKM2) is a key glycolytic enzyme that regulates proliferating cell metabolism. The role of PKM2 in common diseases has been well established, but its role in rare diseases (RDs) is less understood. Over the past few years, PKM2 has emerged as a crucial player in RDs, including, neoplastic, respiratory, metabolic, and neurological disorders. Herein, we summarize recent findings and developments highlighting PKM2 as an emerging key player in RDs. We also discuss the current status of PKM2 modulation in RDs with particular emphasis on preclinical and clinical studies in addition to current challenges in the field.
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http://dx.doi.org/10.1016/j.drudis.2024.103949 | DOI Listing |
J Orthop Surg Res
January 2025
Center of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, China.
Background: Delta large-channel endoscopy and unilateral biportal endoscopy (UBE) are prominent minimally invasive techniques for treating lumbar spinal stenosis, known for minimal tissue damage, clear visualization, and quick recovery. However, rigorous controlled research comparing these procedures is scarce, necessitating further investigation into their respective complications and long-term effectiveness. This randomized controlled trial aims to compare their perioperative outcomes, focusing on postoperative recovery and complications over time.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFNPJ Digit Med
January 2025
Institute of Data Science, Faculty of Science and Engineering, Maastricht University, Maastricht, the Netherlands.
Generating realistic synthetic health data (e.g., electronic health records), holds promise for fundamental research, AI model development, and enhancing data privacy safeguards.
View Article and Find Full Text PDFTransplant Proc
January 2025
Nephrology, Hospital Universitario Donostia, San Sebastián, España.
Hemophagocytic lymphohistiocytosis is a potentially fatal multisystemic inflammatory syndrome that is better understood in the pediatric population. Consequently, the diagnostic criteria for adults still derives from studies conducted in the pediatric population. Several genetic mutations and secondary causes, including infections, autoimmunity, and malignancy, have been reported as significant actors in this condition, especially in adults.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Pediatrics, The University of Tennessee Health Science Center, Memphis, Tennessee, USA.
A term, healthy infant presented with respiratory distress and severe pulmonary hypertension (PH). With an unclear aetiology and the intent to decrease right ventricular afterload, pulmonary vasodilators were initiated. Follow-up imaging revealed a supravalvular mitral ring as the cause of the PH which resolved after surgical resection of the membrane.
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