Scientists reported NOTCH3 genes, which are a cysteine-altering gene variant, occur in 1 in 300 people. According to recent results, such genetic factors could increase the risk of stroke in older patients. In addition, researchers consider this discovery to be a risk factor for people over 65 years old.
What role do NOTCH3 genes play in ischemic strokes?
Cerebral small vessel disease causes around a quarter of the world'sischemic strokesand is the most common cause of vascular dementia. This can manifest as lesions in the brain, which typically show up on brain scans. Such a brain disease is often associated with aging and high blood pressure. However, a minority of cases are caused by genetic factors called NOTCH3 genes. As mentioned above, this type of gene variant occurs in approximately 1 in 300 people. So, this is a rare inherited disease known as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy or CADASIL. Since this is caused by the gene variant mentioned, it has been linked to small vessel disease and an increased risk of stroke.
In the previously published study, researchers assessed a range of health records, including imaging and genome sequencing data from more than 300 patients. Of those, 118 had such a gene variant. Of this group, 12.6% had a history of stroke, compared with 4.9% in a control group. The risk of stroke was significantly higher in those over 65 years old. Patients showed higher numbers of white matter lesions in the brain. Although all patients in the study group had such genetic factors, the specific variant that causes CADASIL was rarely seen. In principle, stroke is a complex multifactorial disease, according to the study authors. Analyzing risk factors and identifying opportunities to improve patient outcomes is therefore a critical part of improving patient care. In addition, providesthis studyrepresents a novel and powerful approach to studying the genetic basis of neurological diseases.
