The findings suggest that the gene mutation that primarily causes inherited hemoglobinopathy may be a risk factor for developing movement disorders, such as Parkinson’s disease, caused by the loss of cells Nerves produce the chemical messenger dopamine.
Additionally, the researchers found that men of European ancestry carried two of the most at-risk gene mutations; female is not.
First author Robert Loughnan, PhD, a postdoctoral scholar in the Laboratory of Population Genetics and Neuroscience at UC San Diego, said: “Sex-specific effects are consistent with disorders another disorder secondary to hemochromatosis. “Men show a higher burden of disease than women because natural processes, such as menstruation and childbirth, remove accumulated excess iron from the body in women.”
According to the Centers for Disease Control and Prevention, the observational study involved conducting MRI scans of 836 participants, 165 of whom had a high genetic risk of developing hereditary hemoglobinopathy, affecting to about 1 in 300 non-Hispanic whites, according to the Centers for Disease Control and Prevention. The scans detected significant amounts of iron in the motor circuits of the brain for these high-risk individuals.
The researchers then analyzed data representing nearly 500,000 individuals and discovered that men, but not women, with a high genetic risk for hemoglobinopathy, were at increased risk of developing hemoglobinopathy. dyskinesia was 1.80-fold higher, with many of these not being co-diagnosed with hemoglobinopathy.
“We hope our study can lead to more awareness of hemochromatosis, as many people at high risk are not aware of the abnormal amount of iron accumulating in their brains,” said the senior author. responds Chun Chieh Fan, MD, Ph.D., an assistant. adjunct professor at UC San Diego and principal investigator at the Laureate Brain Institute, based in Tulsa, OK. “Screening high-risk individuals for early detection can be helpful in timing interventions to avoid more severe consequences.”
Loughnan said the findings have immediate clinical implications because there are already safe and approved treatments to reduce excess iron caused by genetic mutations. In addition, the new data may lead to further revelations about how iron accumulates in the brain and increases the risk of movement disorders.
About 60,000 Americans are diagnosed with Parkinson’s disease each year, with 60% being men. Late-onset Parkinson’s disease (after age 60) is most common, but rates are increasing in younger people.
More broadly, an estimated 42 million people in the United States have some form of movement disorder, such as essential tremor, dystonia, and Huntington’s disease.