Detection of BMAA in the human central nervous system

Area of Science:

• Neuroscience
• Environmental Health
• Toxicology

Background:

• Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with unknown causes.
• The amino acid beta-N-methylamino-l-alanine (BMAA), produced by phytoplankton, is suspected to contribute to motor neuron diseases.
• BMAA has been found in Baltic Sea food webs, including fish consumed by humans.

Purpose of the Study:

• To investigate whether BMAA exposure in the Baltic Sea region is detectable in humans.
• To analyze BMAA presence in blood and cerebrospinal fluid (CSF) of ALS patients and healthy individuals.

Main Methods:

• Ultra-high-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) was used for BMAA detection.
• Multiple reaction monitoring (MRM) and diagnostic transitions were employed for precise quantification.
• Samples from 25 Swedish individuals (ALS patients and controls) were analyzed.

Main Results:

• BMAA was detected in the CSF of 3 out of 25 individuals (12%).
• BMAA was found in both ALS patients and control individuals, with no specific preference.
• BMAA was detected in CSF but not in blood samples.

Conclusions:

• BMAA, potentially from Baltic Sea phytoplankton, can reach the human central nervous system.
• The study does not support BMAA being specifically present in ALS patients.
• This research provides the first ante-mortem evidence of BMAA in the human CNS using UHPLC-MS/MS, warranting further investigation.