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Our Latest Scientific News
Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swollen and painful joints and a hoarse voice. FD phenotypes are heterogeneous varying from mild to very severe cases, with the patients not surviving past their first year of life. This study has the highest number of enrolled Farber patients and carriers reported to present. Liquid chromatography multiple reaction mass spectrometry (LC/MRM-MS) studies revealed that the ceramide C26:0 and especially its isoform 1 is a highly sensitive and specific biomarker for FD (p < 0.0001). The new biomarker can be determined directly in the dried blood spot extracts with low sample consumption. This allows for easy sample preparation, high reproducibility and use in high throughput screenings.
Niemann–Pick disease type C1 (NPC1) is a fatal neurovisceral lysosomal lipid storage disorder. The mutation of the NPC1 protein affects the homeostasis and transport of cholesterol and glycosphingolipids from late endosomes/lysosomes to the endoplasmic reticulum resulting in progressive neurodegeneration. Since olfactory impairment is one of the earliest symptoms in many neurodegenerative disorders, we focused on alterations of the olfactory epithelium in an NPC1 mouse model. Based on immunohistochemical evaluation of the olfactory epithelium, we analyzed the impact of neurodegeneration in the olfactory epithelium of NPC1-/- mice and observed considerable loss of mature olfactory receptor neurons as well as an increased number of proliferating and apoptotic cells.
AMPA-type glutamate receptors (AMPARs), key elements in excitatory neurotransmission in the brain, are macromolecular complexes whose properties and cellular functions are determined by the co-assembled constituents of their proteome. Here we identify AMPAR complexes that transiently form in the endoplasmic reticulum (ER) and lack the core-subunits typical for AMPARs in the plasma membrane. Central components of these ER AMPARs are the proteome constituents FRRS1l (C9orf4) and CPT1c that specifically and cooperatively bind to the pore-forming GluA1-4 proteins of AMPARs. Our results provide insight into the early biogenesis of AMPARs and demonstrate its pronounced impact on synaptic transmission and brain function.
Dear Prof. Rolfs, ...
I want to thank you again for your support in our activity in rare disease field in Romania. It was a great meeting at Rare Disease Day symposium in Bucharest on 23th February. Centogene team participation contributed immensely to our event. It's amazing how much value you offered to our specialists looking to learn about rare diseases and new genomic technologies. Read more...
Romania, March 2017
Dear colleagues, ...
... the world's best laboratory Centogene!
Ukraine, December 2016
... for this success. The secret key of such achievement is the continuous unlimited help, collaboration, dedication and hard work from Centogene team. Special thanks to Daniel and Rami. Looking forward for more publications togother in the near future.
Riyadh, November 2016
I am an experienced neurogeneticist ...
and moved back to Lebanon from the US wanting to make a difference in the diagnosis, care and prevention of recurring neurogenetic disorders in the Lebanese. Alas, I was only partially successful, ... Read more
Lebanon, January 2016
Thank you ...
... very much for your unlimited help and support.
Saudi-Arabia, December 2015