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Molecular pathology and computational profiling of Janus kinase 2 (JAK2) mutation in acute lymphoblastic leukemia: insights from a Pakistani cohort.
Maqsood, Sidra; Ansari, Saqib Hussain; Mushtaq, Mamona; Abbas, Azhar; Waryah, Ali Muhammad; Haq, Zaheer Ul-.
Afiliación
  • Maqsood S; Clinical Research Department, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan.
  • Ansari SH; Clinical Research Department, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan.
  • Mushtaq M; Dr Panjwani Center for Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences, University of Karachi, Karachi, Pakistan.
  • Abbas A; HEJ, International Center for Chemical and Biological Sciences, University of Karachi, Karachi, Pakistan.
  • Waryah AM; Medical Research Centre, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
  • Haq ZU; Dr Panjwani Center for Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences, University of Karachi, Karachi, Pakistan.
Lab Med ; 2024 Aug 19.
Article en En | MEDLINE | ID: mdl-39158980
ABSTRACT

BACKGROUND:

JAK2 mutation plays a clinically significant role in the pathogenesis of acute lymphoblastic leukemia (ALL) by enhancing its oncogenicity. The study aimed to characterize the molecular pathology and computational profile of the JAK2 mutation in an ALL cohort of Pakistani origin.

METHODS:

Ninety-three patients were enrolled in the current study. The disease diagnosis was confirmed via flow cytometry and karyotyping of bone marrow aspirate/blood. For the identification of causative gene variations and assessment of their potential impact, the JAK2 gene underwent direct sequencing and predictive computational and in silico structural analysis, respectively.

RESULTS:

JAK2 mutations were detected in 10 (11%) patients. All mutations were missense with 1 being frameshift. Most mutations showed a similar pattern to the wild type but p.N673H+p.V674L+p.C675W (AAD699), p.V674F (AAD704), and p.V674L (AAD705) exhibited statistically significant stability loss. The triple mutation displayed reduced stability both globally and locally.

CONCLUSION:

The pattern of gene defects in JAK2 in the studied cohort showed a disruption in proper folding behavior, evident from increased gyration values, resulting in the hypothesis that these mutations may cause structural alterations in the JAK2 protein that lead to disease progression.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Lab Med Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Lab Med Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Reino Unido