Genetic Path to Parkinson's May Unlock Early Diagnosis

Researchers uncover link between genetic variant, lipid metabolism, and Parkinson's disease risk.

Feb. 6, 2026 at 11:23pm

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A team of researchers at Baylor College of Medicine and Texas Children's Hospital has discovered a connection between a genetic variant, disruptions in lipid metabolism, and the development of Parkinson's disease. The findings suggest the possibility of identifying people at risk before symptoms appear and developing new treatment strategies.

Why it matters

Parkinson's disease is the second most common neurodegenerative disease, affecting millions worldwide. This research provides new insights into the genetic and metabolic factors that may contribute to the onset and progression of the disease, which could lead to earlier diagnosis and more effective interventions.

The details

The researchers focused on a common Parkinson's risk gene called SPTSSB, which helps regulate the synthesis of sphingolipids. They found that a specific variant of this gene, rs1450522, increases the production of the SPTSSB protein in the brain and alters the levels of various sphingolipids and fatty acids in the blood. These metabolic changes were also observed in people with Parkinson's disease, suggesting a potential causal link between the genetic variant, lipid metabolism, and the development of the disease.

  • The findings were published in the journal Brain in 2026.

The players

Dr. Joshua Shulman

Professor of neurology, neuroscience and molecular and human genetics at Baylor College of Medicine, and an investigator and co-director of the Duncan Neurological Research Institute at Texas Children's Hospital.

Baylor College of Medicine

A private medical school and research institution located in Houston, Texas.

Duncan Neurological Research Institute (Duncan NRI)

A research institute at Texas Children's Hospital focused on understanding the genetic and molecular basis of neurological disorders.

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What they’re saying

“Parkinson's disease is the second most common neurodegenerative disease after Alzheimer's disease, affecting more than 10 million people worldwide. We know more than 100 genes that increase the risk of developing the disease but, in most cases, we do not understand how the genetic change leads to the condition.”

— Dr. Joshua Shulman, Professor of neurology, neuroscience and molecular and human genetics (Mirage News)

“We identified multiple other lipids that were altered in patients with Parkinson's disease. For instance, fatty acids were present at lower levels in patients than in people without the condition. Interestingly, healthy individuals carrying the SPTSSB variant who had higher levels of multiple sphingolipids in blood also had lower levels of certain fatty acids.”

— Dr. Joshua Shulman, Professor of neurology, neuroscience and molecular and human genetics (Mirage News)

“Currently, early diagnosis remains an unsolved challenge in Parkinson's research. We need sensitive, specific tests that can detect the disease before symptoms appear. By the time patients come to see me because of their symptoms, often their brains are already significantly affected, and we can only treat the symptoms for which we have effective therapies. But we still lack options for early diagnosis or for delaying or preventing this devastating disease.”

— Dr. Joshua Shulman, Professor of neurology, neuroscience and molecular and human genetics (Mirage News)

What’s next

The researchers are continuing to pursue this line of research, as it may lead to the development of early diagnostic tests for Parkinson's disease that could detect the condition before the onset of symptoms.

The takeaway

This study provides important insights into the genetic and metabolic factors that contribute to the development of Parkinson's disease, offering new avenues for early diagnosis and the potential to develop treatments that could delay or prevent the onset of this devastating neurodegenerative disorder.