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DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan
Kathleen E Langbehn1, Zoe Carlson-Stadler1, Ellen van der Plas1
1Department of Psychiatry (K.E.L., Z.C.-S., E.v.d.P., D.J.M., and P.C.N.), Department of Pathology (M.M.H.), Department of Pediatrics (P.C.N.), and Department of Neurology (P.C.N.), College of Public Health (J.D.D.), University of Iowa.
Wildtype myotonic dystrophy protein kinase (DMPK) gene expression in the human brain increases during fetal development, peaks around birth, and declines by age 10. This pattern highlights DMPK
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Myotonic dystrophy is a genetic disorder caused by trinucleotide repeat expansions in the myotonic dystrophy protein kinase (DMPK) gene.
- Understanding the normal expression patterns of the wildtype DMPK gene is crucial for deciphering its role in brain development.
Purpose of the Study:
- To investigate age-related variations in wildtype DMPK gene expression within the human brain.
- To establish baseline DMPK expression patterns across a wide age range, from early development to adulthood.
Main Methods:
- Analysis of DMPK messenger RNA (mRNA) sequencing and microarray data from 99 human brain donors (5 weeks postconception to 80 years old).
- Utilized BrainSpan and Yale datasets for comprehensive gene expression analysis.
- Employed restricted cubic spline linear regression models to assess the impact of age and sex on normalized DMPK expression.
Main Results:
- Age was a significant predictor of normalized DMPK expression in the human brain across both analyzed datasets (p < 0.005).
- Wildtype DMPK expression shows a distinct pattern: a steady increase during fetal development, peaking around birth, followed by a decline to a low point by approximately age 10.
- Sex was not found to be a significant predictor of DMPK expression levels.
Conclusions:
- The peak expression of DMPK during the perinatal period coincides with critical stages of dynamic brain development.
- Altered DMPK expression patterns, as seen in myotonic dystrophy, may significantly impact early brain development and neurological function.
