Researchers Identify Potential Skin Biomarker for ALS
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting motor neurons from the cortex, brain stem, and spinal cord. As a result of this disease, motor neurons gradually decrease functioning until they die, which causes progressive and fatal muscular paralysis of the patient. ALS is therefore the most severe motor neuron disease. Its diagnosis is based on the presence of clinical symptoms such as difficulty walking or carrying out normal daily activities; stumbling and falling; weakness in the legs, feet, or ankles; weakness or clumsiness of the hands; difficulty talking or swallowing; muscle cramps; and spasms in the arms, shoulders, and tongue. These manifestations appear when motor neuron degeneration is in an advanced stage, therefore it is already too late to start a neuroprotective treatment to slow the progression of this incurable disease
@sachin There is a great need to identify biomarkers that would allow for an early diagnosis of ALS. For this reason, researchers from the Autonomous University of Barcelona (UAB) in Spain, Mar Hospital, and Bellvitge University Hospital, all located in Barcelona, Spain, performed skin biopsies on individuals with this disease to analyze their dermis in search of biomarkers that could potentially become tools for early diagnosis. The results of this study led by Mireia Herrando-Grabulosa, MD, PhD, a postdoctoral researcher, and Xavier Navarro, MD, PhD, professor of physiology, both at the Neurosciences Institute at UAB, and Miguel Ángel Rubio, MD, ALS Unit Coordinator at Mar Hospital, were published in the journal Cells in January 2022. The researchers identified TDP-43 protein in the cytoplasm of dermis cells of individuals with ALS, which was not present in the samples from the two control groups. One control group included individuals without ALS, called the healthy control group. The other included individuals with multiple sclerosis or Parkinson's disease, both neurodegenerative pathologies with a neuroinflammatory component, which was called the neurological control group.