In the Journal of Medical Genetics, a Sichuan University-led team reports on findings from a genetic analysis of amyotrophic lateral sclerosis (ALS) in almost 1,600 individuals from mainland China with familial or sporadic forms of the disease. The researchers relied on repeat-primed PCR, targeted C9orf72 repeat testing or exome sequencing to compare genetic features in 64 familial ALS (FALS) cases and 1,523 sporadic ALS (SALS) cases with those found in 1,866 control samples, uncovering rare pathogenic or likely pathogenic variants in genes such as C9orf72, SOD1, FUS, or TARDBP in nearly 41 percent of the FALS patients and 8.5 percent of SALS patients. "Clinically, [pathogenic or likely pathogenic] variants in TARDBP and C9orf72 were associated with poor prognosis," the authors write, noting that risky FUS variants "linked with younger age of onset, and C9orf72 repeats tended to affect cognition." In addition, they write, tracking down the ALS mutation spectrum "is beneficial in drafting genetic scanning strategies, especially for patients with FALS and those with an age of onset younger than 30 years."
Amyotrophic Lateral Sclerosis Genetic Risk Untangled in Mainland Chinese Populations
Aug 22, 2022