AML, MDS, Myeloproliferative Disorder
Conditions
Keywords
gene expression, gene sequencing, gene encoding, MPD, MDS, AML, mDia
Brief summary
Aim of the study is to analyze the expression of genes and sequences encoding the human mammalian diaphanous (mDia) related formin proteins to test the hypothesis that defects in the mDia expression or function might drive the pathophysiology of myelodysplastic syndrome, acute myeloid leukemia and other myeloproliferative diseases.
Detailed description
Leukocytes and myeloid lineage cells from these specimens will be assayed for expression of DRF genes using standard molecular biological approaches to measure mRNA levels. Extracted DNA will be analyzed for mutations that affect expressions or function using direct sequencing techniques. Alternatively, expression of DRF gene products (mDia proteins) will be assessed using specific antibodies and flow cytometry. Molecular findings resulting from these assays will be correlated with clinical information recorded in specimen logbook.
Interventions
None listed
Sponsors
Van Andel Research Institute
Community Foundation for Southeast Michigan (JP McCarthy Fund)
Corewell Health West
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* 18 and over * Male * Female * Diagnosed with MDS, MPD and AML
Exclusion criteria
* Under the age of 18 * Received bone marrow transplant Control Group Criteria: inclusion: * healthy men and women * ≥ 55 years of age exclusion: * history of hematological condition * history of cancer
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| to determine if defective DRF1 expression or mDia1 function may contribute to myeloid malignancies and point to mDia1 as an attractive therapeutic target in MDS and MPS | within a year |
Countries
United States
Outcome results
None listed