Screening

Common Biomarker Links 2 Neurodegenerative Disorders

Researchers have found a common biomarker associated with 2 forms of dementia—frontotemporal dementia (FTD), which is common in older adults, and neuronal ceroid lipofuscinosis (NCL), which is typically seen in children.1

FTD is a neurodegenerative syndrome in which progranulin levels are low. NCL, on the other hand, results from the complete loss of progranulin.
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To conduct their study, the researchers examined lipofuscin in individuals who carry FTD-related mutations in the progranulin gene. First, they evaluated lipofuscin levels in the retina—because one of the first symptoms of NCL is vision loss due to lipofuscin accumulation in the retina—using a noninvasive imaging technique.

Compared with healthy individuals, those who had mutations in the progranulin gene were about twice as likely to have retinal lipofuscin deposits, although they did not have any symptoms.

Next, the researchers investigated lipofuscin in postmortem tissues of the frontal cortex, which is the part of the brain that is most affected by FTD. The results of this investigation showed that individuals who had mutations in the progranulin gene also had lipofuscin accumulation in the neurons from the frontal cortex.

In addition, the researchers found that individuals with NCL, as well as asymptomatic individuals who had mutations in the progranulin gene, had higher levels of NCL-like lipofuscin in their lymphobasts. After restoring these progranulin levels to normal, the levels of NCL-like lipofuscin decreased in the cells.

“Our study shows that lipofuscin in the retina and in blood cells could serve as an early marker of disease,” the researchers said. “Importantly, it also suggests that restoring the levels of progranulin to normal will prevent or help treat multiple neurodegenerative disorders.”2

—Amanda Balbi

Reference:

  1. Ward ME, Chen R, Huang H-Y, et al. Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis [published online April 12, 2017]. Sci Transl Med. doi:10.1126/scitranslmed.aah5642.
  2. Common factor links neurodegenerative disease in young and old [press release]. San Francisco, CA: Gladstone Institutes; April 12, 2017. https://gladstone.org/about-us/press-releases/common-factor-links-neurodegenerative-disease-young-and-old. Accessed April 13, 2017.