Amyotrophic Lateral Sclerosis is a neurodegenerative disorder affecting motor neurons in the spinal cord, cortex, and brainstem causing progressive and fatal muscular paralysis. ALS was diagnosed based on the presence of clinical symptoms such as difficulty walking, weakness in the legs, muscle cramps, etc manifested in the advanced stage of the disease. 

Therefore, Researchers performed a skin biopsy on affected individuals to analyse their skin tissue in search of biomarkers that could help in early diagnosis. The result of the study published in the journal Cells identified TDP-43 protein in the cytoplasm of the skin tissue was present only in the affected group, but was absent in the non-affected control group.  

TDP-43 protein is usually present in the nucleus of the cells present in the brain stem and spinal cord. However, when the cell undergoes degeneration in the diseased population, these proteins are released in the cytoplasm. Hence, it is a biomarker but carrying out a CNS biopsy to monitor the disease development and progression is impractical. These researchers conducted a trial biopsy on the dermis tissue of the subjects. They found that TDP-43 protein followed the same mechanism in the dermis, the fibroblast of the ALS Patient. The results provide a new procedure for early diagnosis but it will not be a tool that can be used in clinical practice stated the researchers.

(Source: https://www.medscape.com/viewarticle/972630?src= )