New gene variant linked to stroke

January 28, 2021

Researchers at Lund University in Sweden believe they have identified a gene variant that can cause cerebral small vessel disease and stroke. The study is published in Neurology Genetics.

"The patients we have studied are from the same extended family, and several of them have been diagnosed with cerebral small vessel disease and suffered strokes. After tissue examination and using genetic sequencing methods, we found that they were carriers of a new gene variant that could be connected to their diagnoses," says Andreea Ilinca, researcher at Lund University and neurologist at Skåne University Hospital.

Stroke is either caused by a blood clot that leads to a lack of oxygen in the brain, or a hemorrhage in the brain. High blood pressure, high cholesterol levels, diabetes, atrial fibrillation and lifestyle factors such as smoking are known risk factors for stroke. However, an increasing amount of research is indicating that genetic factors also play a major role.

Therefore, the Lund researchers have studied an extended family, the majority of whom live in southern Sweden, where eight out of 15 people developed cerebral small vessel disease. The disease is characterized by ischemic stroke (cerebral infarction caused by blood clots) and cerebral hemorrhage, as well as mild cognitive impairment, autonomic nervous system dysfunctions and coordination difficulties.

When examining tissue from those that had experienced symptoms, the researchers could see microscopic changes in the blood vessels of the brain and in small skin vessels.

Using modern genetic analysis methods, they were also able to establish that they had found a new variant in the MAP3K6 gene, that they believe may be related to the disease. MAP3K6 is a gene that, among other things, affects the function of a protein that helps the brain's blood vessels to react correctly to damage, such as a low oxygen supply to the brain.

"By identifying genetic variants that are associated with disease in the vessels of the brain and early stroke, we can better understand what could prevent these harmful processes. Future studies that can give us more knowledge about the molecular disease mechanism can lead to new treatments", concludes Andreea Ilinca.
-end-


Lund University

Related Stroke Articles from Brightsurf:

Stroke alarm clock may streamline and accelerate time-sensitive acute stroke care
An interactive, digital alarm clock may speed emergency stroke care, starting at hospital arrival and through each step of the time-sensitive treatment process.

Stroke patients with COVID-19 have increased inflammation, stroke severity and death
Stroke patients who also have COVID-19 showed increased systemic inflammation, a more serious stroke severity and a much higher rate of death, compared to stroke patients who did not have COVID-19, according a retrospective, observational, cross-sectional study of 60 ischemic stroke patients admitted to UAB Hospital between late March and early May 2020.

'Time is vision' after a stroke
University of Rochester researchers studied stroke patients who experienced vision loss and found that the patients retained some visual abilities immediately after the stroke but these abilities diminished gradually and eventually disappeared permanently after approximately six months.

More stroke awareness, better eating habits may help reduce stroke risk for young adult African-Americans
Young African-Americans are experiencing higher rates of stroke because of health conditions such as high blood pressure, diabetes and obesity, yet their perception of their stroke risk is low.

How to help patients recover after a stroke
The existing approach to brain stimulation for rehabilitation after a stroke does not take into account the diversity of lesions and the individual characteristics of patients' brains.

Kids with headache after stroke might be at risk for another stroke
A new study has found a high incidence of headaches in pediatric stroke survivors and identified a possible association between post-stroke headache and stroke recurrence.

High stroke impact in low- and middle-income countries examined at 11th World Stroke Congress
Less wealthy countries struggle to meet greater need with far fewer resources.

Marijuana use might lead to higher risk of stroke, World Stroke Congress to be told
A five-year study of hospital statistics from the United States shows that the incidence of stroke has risen steadily among marijuana users even though the overall rate of stroke remained constant over the same period.

We need to talk about sexuality after stroke
Stroke survivors and their partners are not adequately supported to deal with changes to their relationships, self-identity, gender roles and intimacy following stroke, according to new research from the University of Sydney.

Standardized stroke protocol can ensure ELVO stroke patients are treated within 60 minutes
A new study shows that developing a standardized stroke protocol of having neurointerventional teams meet suspected emergent large vessel occlusion (ELVO) stroke patients upon their arrival at the hospital achieves a median door-to-recanalization time of less than 60 minutes.

Read More: Stroke News and Stroke Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.