برای تشخیص ALS تابحال راهکار و تست قطعی وجود نداشته تست بدون زحمت اختصای با آزمایش خون با تعیین نشانه کروموزومی بیماری به تشخیص زودرس کمک میکند.
The noninvasive detection of changes in the blood specific to amyotrophic lateral sclerosis (ALS) may improve the diagnosis of the disease, according to researchers.
Their study, “Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis,” appeared in the journal EBioMedicine.
Although clinicians have tools to monitor ALS progression, no clinically validated measure currently exists to diagnose the disease, which contributes to diagnostic delay. This delay may have significant consequences on patients’ health and lifestyle, and it may also limit patient recruitment to clinical trials.
Gene sequencing in ALS is mainly used to analyze familial risk and define biological subtypes in the subset of patients carrying genetic mutations. But it does not provide a strategy to improve early diagnosis in the majority of patients, who don’t have a known genetic link to the disease.In this study, scientists analyzed blood and tissue samples from the Northeast ALS Consortium (NEALS) Biofluid Repository, based in New England, with EpiSwitch (Oxford Biodynamics, based in Oxford, England), a high-resolution technology that detects and validates domains within the genome — known as chromosomal conformation signatures (CCS) — that change gene regulation.