Publications by authors named "M Luiza Petzl-Erler"
Article Synopsis
- * Currently, about 20% of the combined haplotypes from Europe are represented, but many common and rare haplotypes, particularly those associated with certain diseases, are still lacking from the global sample.
- * The workshop is now seeking DNA samples from diverse populations, especially non-Europeans, resulting in 537 individuals contributing 294 distinct haplotypes, but still highlighting the need for more representation, particularly from African populations.
Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus-A Possible Epigenetic Effect in the Autoimmune Response.
Life (Basel)
December 2023
Article Synopsis
- Pemphigus foliaceus (PF) is an autoimmune skin disease caused by the production of antibodies against desmoglein-1, with a specific endemic form (EPF) prevalent in Brazil.
- A study examined the genetic relationship between histone (de)acetylation-related genes and EPF, identifying certain genetic variants that increase or decrease susceptibility to the disease.
- Additionally, RNA sequencing revealed altered expression levels of specific genes in CD4 T lymphocytes from untreated EPF patients, suggesting these genes may play a role in immune response and disease pathology.
Article Synopsis
- - Pemphigus foliaceus (PF) is an unusual autoimmune skin disease primarily caused by autoreactive B cells, with notable prevalence in Brazil's endemic regions, suggesting environmental factors play a significant role in its development.
- - The study analyzed the B-cell repertoire of PF patients in various states—untreated, under treatment, and in remission—compared to healthy individuals from both endemic and non-endemic areas using advanced sequencing techniques.
- - Results showed significantly lower clonotype diversity in the endemic patients, longer CDR3 sequences, and specific IGHV segment usage linked to active disease, indicating that both environmental influences and disease status affect immune responses.
The Second Highest Prevalence of Celiac Disease Worldwide: Genetic and Metabolic Insights in Southern Brazilian Mennonites.
Genes (Basel)
April 2023
Celiac disease (CD), despite its high morbidity, is an often-underdiagnosed autoimmune enteropathy. Using a modified version of the Brazilian questionnaire of the 2013 National Health Survey, we interviewed 604 Mennonites of Frisian/Flemish origin that have been isolated for 25 generations. A subgroup of 576 participants were screened for IgA autoantibodies in serum, and 391 participants were screened for HLA-DQ2.
View Article and Find Full Text PDFBackground: Celiac disease (CD) is an autoimmune disorder triggered by an abnormal immunological response to gluten ingestion and is associated with deregulated expression of cellular microRNAs (miRNAs) of the gut mucosa. It is frequently misdiagnosed as lactose intolerance (LI) due to symptom resemblance. Microvilli loss may be counteracted by a rigorous gluten-free diet (GFD).
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