Journal article: Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population Link: https://www.sciencedirect.com/science/article/abs/pii/S0009898124020655 Summary: These researchers used newborn screening to...
Heather’s Journal Club - Articles
Dysregulated Myosin in HPS lung fibroblasts
Subject: Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility - PubMed Researchers continue to study pulmonary fibrosis in the HPS population. Myosin is a protein that has a role in muscle contraction. Increased...
Special Strain of Mice to Study Human Disease
Research continues as shown by this article. A murine model(special strain of mice to study human disease) has been developed for the study of HPS pulmonary fibrosis. A different mode of putting Bleomycin ( a chemotherapeutic antibiotic) into the mice model was...
The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.
This article is a review of lysosome-related organelles. They are specialized structures within a cell that have specific jobs to perform. These organelles are involved in coloring in eyes and skin, hemostasis (stopping of bleeding), and lung function. In HPS they...
Crohn’s-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report – PubMed
There have been several articles written worldwide about Hermansky-Pudlak syndrome associated colitis in types 1 and 4. This article from France as shown that using immunosuppressive drugs such as Remicade led to a positive response in the granulomatous colitis of a...
Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2
Just the title of this Japanese article is intimidating, however, the information it contains is valuable. HPS type 2 can exhibit failure of the immune system to protect the body adequately from infection. Type 2 like all other HPS types has ocular albinism (OCA)....
HPS proteins caused injury to the kidney in the Zebrafish
In this German study, attention was given to renal (kidney) disease in HPS. Zebrafish, which have similar genetic structures to humans, were used. Results showed that HPS proteins in certain types of HPS caused injury to the kidney in the Zebrafish. This study gives...
HPS was Diagnosed at an Older Age Due to Limited Knowledge
This Polish article shows that HPS was diagnosed at an older age due to limited knowledge of symptoms presenting earlier in life. Life style habits such as smoking and frequent untreated infections could have negative effects and might have sped up the lung disease in...
European Study Shows How HPS Research is Far Reaching
Flavia’s Journal Club “This European study shows how HPS research is far reaching. Not only are dense bodies being studied but also Weibel Palade bodies that form the lining of blood vessels and heart. They play a dual role in preventing bleeding and inflammation. You...