In an article published in Small, researchers successfully applied a new qualitative and quantitative method for the detection of a DNA sequence characteristic of Leishmania infantum kinetoplast, a frequent parasite in veterinary that affects humans too. The work was led from the Catalan In ... more
Study of skin biopsies offers potential as new diagnostic marker for Amyotrophic Lateral Sclerosis
The discovery of this biomarker detectable in small skin samples can be very useful for cases in which diagnosis is difficult
Barcelona (UAB) and of the Functional Unit for Amyotrophic Lateral Sclerosis at the Hospital del Mar have identified the presence of an ALS biomarker in the skin of the patients. This specific protein, TDP-43, is present outside the nucleus of skin cells of patients. The presence in the skin of an elevated number of cells with this abnormality allows to predict whether the patient has the disease or not, apart from how far it has progressed.
The research, published in the journal Cells, was led by Dr Xavier Navarro and Dr Mireia Herrando-Grabulosa, both from the Neuroplasticity and Regeneration Group of the Department of Cell Biology, Physiology and Immunology and the Institut de Neurociències of the UAB, and by Dr Miguel Ángel Rubio, coordinator of the ALS Functional Unit at Hospital del Mar. They analyzed skin samples of patients with ALS from this centre and the Bellvitge University Hospital. The results were compared to those of ten healthy subjects and ten other patients suffering from other neurodegenerative diseases with chronic neuroinflammation component. The researchers studied the presence of TDP-43 protein in skin cells, since this protein is found in all of the body cells and is basic for developing their functions, outside the cell nucleus, i.e. in the cytoplasm. It is known that its presence outside the nucleus in the motor neurons of the brain and the spinal cord is seen in 97% of ALS patients.
More common in ALS patients
The researchers were able to determine that the TDP-43 protein had also abandoned the cell nucleus in a large amount of skin cells of the ALS patients analyzed, using small skin biopsies. The same was not found in the samples of the subjects in the control groups. “In the skin layers analyzed, the ALS patients presented more fibroblasts, which are basic tissue cells in the dermis, with the mark of the disease which is normally seen in the spinal cord and the motor cortex, when compared to the members of the healthy control group and the control group with other pathologies”, Dr Rubio points out. In addition, skin samples from ALS patients were taken one year later, thus certifying that this situation continues to exist to the same extent, regardless of the evolution and progression of the disease.
Specifically, this anomaly is seen in one of every four skin tissue cells (in 24.1% of fibroblast cells) of ALS patients, while it is almost non-detectable in healthy individuals or in those with other neurodegenerative diseases. As Dr Rubio highlights, “we have a biomarker that works as a fingerprint of the disorder in the nervous system, and we also confirmed that it can be found in the skin. Moreover, we can quantify and determine the theoretical cutoff point to be able to give a diagnosis in specific cases”.
“It is probable that this marker, in pre-symptomatic stages, before having any initial motor manifestations, could already be present and that is why it may be relevant for a diagnosis”, explains Dr Rubio. He also made it clear that presently, this tool can help in cases of difficult diagnosis or in people with a family history of ALS who present mutations in the genes that can cause the disease. In any case, further studies are needed, with more patients, to certify that this new biomarker can be used to speed up the diagnosis of the disease.
- skin biopsies
- amyotrophic lateral…
Scientists at the Universitat Autònoma de Barcelona, Spain, have developed and validated an identity test that can be used to confirm the breed and origin of meat from farm animals. The test was developed in collaboration with Applied Biosystems , an Applera Corporation business, and uses a ... more
- 1Miniaturized Lab-on-a-Chip for real-time Chemical Analysis of Liquids
- 2Organic thin-film sensors for light-source analysis and anti-counterfeiting applications
- 3A new era of early cancer detection with blood test may change cancer screening paradigms
- 4Beckman Coulter Life Sciences acquires Dublin biotech start-up
- 5Less risk, less costs: Portable spectroscopy devices could soon become real
- 6Pumping up the music of molecules
- 7Mobile phone app accurately detects COVID-19 infection in people’s voices with the help of artificial intelligence
- 8Early Detection by Tango
- 9Pharmacoscopy: Next-Generation Microscopy
- 10How does your computer smell?
- A CSIC and UPV team creates the first portable magnetic resonance imaging device
- Gene editing via CRISPR/Cas9 can lead to cell toxicity and genome instability
- Chromatin originated in ancient microbes one to two billion years ago
- Researchers develop a test that uses a cell phone to simply and quickly detect gluten in food
- Abundant ‘secret doors’ on human proteins could reshape drug discovery