Publications by authors named "K Truve"

Objective: To describe a possible novel genetic mechanism for cerebral small vessel disease (cSVD) and stroke.

Methods: We studied a Swedish kindred with ischemic stroke and intracerebral hemorrhage, tremor, dysautonomia, and mild cognitive decline. Members were examined clinically, radiologically, and by histopathology.

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Identification of causative genetic variants leading to the development of bipolar disorder (BD) could result in genetic tests that would facilitate diagnosis. A better understanding of affected genes and pathways is also necessary for targeting of genes that may improve treatment strategies. To date several susceptibility genes have been reported from genome-wide association studies (GWAS), but little is known about specific variants that affect disease development.

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Backgrounds and Purpose- Although new methods for genetic analyses are rapidly evolving, there are currently knowledge gaps in how to detect Mendelian forms of stroke. Methods- We performed whole-exome sequencing in 22 probands, under 56 years at their first ischemic stroke episode, from multi-incident stroke families. With the use of a comprehensive stroke-gene panel, we searched for variants in stroke-related genes.

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Article Synopsis
  • The study reveals a significant fivefold difference in survival among Bcs1l mice with respiratory chain complex III (CIII) deficiency, linked to a specific mitochondrial DNA mutation (m.G14904A) in the cytochrome b subunit.
  • Researchers demonstrated that this mutation further reduces CIII activity to critical levels, leading to decreased lifespans in those mice.
  • The findings illustrate a unique interaction between mitochondrial and nuclear genes, emphasizing the impact of mitochondrial DNA variations on the severity of mitochondrial diseases.
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Perinatal infection and inflammation are major risk factors for injury in the developing brain, however, underlying mechanisms are not fully understood. Leukocyte migration to the cerebrospinal fluid (CSF) and brain is a hallmark of many pathologies of the central nervous system including those in neonates. We previously reported that systemic activation of Toll-like receptor (TLR) 2, a major receptor for gram-positive bacteria, by agonist Pam3CSK4 (P3C) resulted in dramatic neutrophil and monocyte infiltration to the CSF and periventricular brain of neonatal mice, an effect that was absent by the TLR4 agonist, LPS.

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