TY - ABST

T1 - D13 Saliva biomarker discovery in Huntington’s disease

AU - Qvist, Filippa L.

AU - Hellem, Marie Nn

AU - Nielsen, Jorgen E.

AU - Mann, Matthias

AU - Skotte, Niels H.

PY - 2022

Y1 - 2022

N2 - Saliva is a body fluid that is easily accessible compared to cerebrospinal fluid or even blood. Collection is cheap, stress-free, and does not require the help of specialised medical personnel. Interestingly, the huntingtin protein has been quantified in saliva, found increased in HD patients, and correlates with clinical measures. We believe that saliva proteomics could be a complementary avenue for exploring novel biomarkers in HD. The overall aims are to identify and quantify protein biomarker candidates in saliva samples from non-symptomatic (n=44) and symptomatic gene expansion carriers (n=65) compared to healthy family controls (n=37) and to correlate expression data with collected data from both plasma and CSF samples. For the saliva collection, the participants placed a cotton pad in their mouth and chewed for one minute until the cotton was saturated. To avoid sampling bias, participants were asked to refrain from eating and drinking before collection. Thirty minutes before the collection, the participants rinsed their mouth with water. The samples were processed and analysed using EASY-nLC1200 coupled to a TimsTOF Pro mass spectrometer via a nano-electrospray ion source. Raw spectral data was analysed in Spectronaut and then transferred to the Clinical Knowledge Graph for statistical analysis and visualization. We find 198 significant protein changes across the three groups for further exploration and validation. Interestingly, there are overlaps with known proteins in HD supporting the data. Pathway enrichment analysis points towards altered metabolism, innate immune response, and oxygen transport. In conclusion, our data warrants a replication cohort to establish clinical utility.

AB - Saliva is a body fluid that is easily accessible compared to cerebrospinal fluid or even blood. Collection is cheap, stress-free, and does not require the help of specialised medical personnel. Interestingly, the huntingtin protein has been quantified in saliva, found increased in HD patients, and correlates with clinical measures. We believe that saliva proteomics could be a complementary avenue for exploring novel biomarkers in HD. The overall aims are to identify and quantify protein biomarker candidates in saliva samples from non-symptomatic (n=44) and symptomatic gene expansion carriers (n=65) compared to healthy family controls (n=37) and to correlate expression data with collected data from both plasma and CSF samples. For the saliva collection, the participants placed a cotton pad in their mouth and chewed for one minute until the cotton was saturated. To avoid sampling bias, participants were asked to refrain from eating and drinking before collection. Thirty minutes before the collection, the participants rinsed their mouth with water. The samples were processed and analysed using EASY-nLC1200 coupled to a TimsTOF Pro mass spectrometer via a nano-electrospray ion source. Raw spectral data was analysed in Spectronaut and then transferred to the Clinical Knowledge Graph for statistical analysis and visualization. We find 198 significant protein changes across the three groups for further exploration and validation. Interestingly, there are overlaps with known proteins in HD supporting the data. Pathway enrichment analysis points towards altered metabolism, innate immune response, and oxygen transport. In conclusion, our data warrants a replication cohort to establish clinical utility.

U2 - 10.1136/jnnp-2022-ehdn.69

DO - 10.1136/jnnp-2022-ehdn.69

M3 - Conference abstract in journal

VL - 93

SP - A24-A25

JO - Journal of Neurology, Neurosurgery and Psychiatry

JF - Journal of Neurology, Neurosurgery and Psychiatry

SN - 0022-3050

IS - Suppl. 1

ER -