Plasma Biomarkers for Neuronal Ceroid Lipofuscinosis

Overview

Journal FEBS J

Specialty Biochemistry

Date 2015 Nov 14

PMID 26565144

Citations 11

Authors

Samantha L Hersrud

Ryan D Geraets

Krystal L Weber

Chun-Hung Chan

David A Pearce

Affiliations

Soon will be listed here.

Abstract

The neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative genetic diseases that primarily affect children and have no known cure. A unified clinical rating scale for the juvenile form of NCL has been developed, although it has not been validated in other subtypes and does not give a true measure of the pathophysiological changes occurring during disease progression. In the present study, we have identified candidate biomarkers in blood plasma of NCL disease using multiple proteomic approaches, with the aim of developing a panel of biomarkers that could serve as a metric for therapeutic response. Candidate biomarkers were identified as proteins with levels that significantly differed between patients and controls in both sample sets. The seven candidates identified have previously been associated with neurodegenerative and inflammatory diseases. Multiplex immunoassay based testing was the most efficient and effective evaluation technique and could be employed on a broad scale to track patient response to treatment.

Citing Articles

Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience.

Radic Nisevic J, Kolic I, Kostanjski M, Kovacevic F, Prpic I J Pers Med. 2024; 14(8).

PMID: 39201975 PMC: 11355585. DOI: 10.3390/jpm14080783.

Dem-Aging: autophagy-related pathologies and the "two faces of dementia".

Gammaldi N, Doccini S, Bernardi S, Marchese M, Cecchini M, Ceravolo R Neurogenetics. 2023; 25(1):39-46.

PMID: 38117343 DOI: 10.1007/s10048-023-00739-3.

An altered transcriptome underlies -deficiency phenotypes in .

Kim W, Huber R Front Genet. 2022; 13:1045738.

PMID: 36437924 PMC: 9686302. DOI: 10.3389/fgene.2022.1045738.

Neuroinflammation in Gaucher disease, neuronal ceroid lipofuscinosis, and commonalities with Parkinson's disease.

Francelle L, Mazzulli J Brain Res. 2022; 1780:147798.

PMID: 35063468 PMC: 9126024. DOI: 10.1016/j.brainres.2022.147798.

Altered protein secretion in Batten disease.

Huber R Dis Model Mech. 2021; 14(12).

PMID: 34870700 PMC: 8669491. DOI: 10.1242/dmm.049152.

References

Cooper J, Russell C, Mitchison H . Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. Biochim Biophys Acta. 2006; 1762(10):873-89. DOI: 10.1016/j.bbadis.2006.08.002. View

Ewers M, Mielke M, Hampel H . Blood-based biomarkers of microvascular pathology in Alzheimer's disease. Exp Gerontol. 2009; 45(1):75-9. PMC: 2815204. DOI: 10.1016/j.exger.2009.09.005. View

Brochu-Gaudreau K, Rehfeldt C, Blouin R, Bordignon V, Murphy B, Palin M . Adiponectin action from head to toe. Endocrine. 2010; 37(1):11-32. DOI: 10.1007/s12020-009-9278-8. View

Antonelou M, Kriebardis A, Stamoulis K, Trougakos I, Papassideri I . Apolipoprotein J/Clusterin is a novel structural component of human erythrocytes and a biomarker of cellular stress and senescence. PLoS One. 2011; 6(10):e26032. PMC: 3188580. DOI: 10.1371/journal.pone.0026032. View

Boschetti E, Chung M, Righetti P . "The quest for biomarkers": are we on the right technical track?. Proteomics Clin Appl. 2012; 6(1-2):22-41. DOI: 10.1002/prca.201100039. View

Ando T, Nagai K, Chikada M, Okamoto K, Kurokawa M, Kobayashi T . Proteomic analyses of aortic wall in patients with abdominal aortic aneurysm. J Cardiovasc Surg (Torino). 2011; 52(4):545-55. View

Thambisetty M, An Y, Kinsey A, Koka D, Saleem M, Guntert A . Plasma clusterin concentration is associated with longitudinal brain atrophy in mild cognitive impairment. Neuroimage. 2011; 59(1):212-7. PMC: 3425349. DOI: 10.1016/j.neuroimage.2011.07.056. View

Fagan A, Younkin L, Morris J, Fryer J, Cole T, Younkin S . Differences in the Abeta40/Abeta42 ratio associated with cerebrospinal fluid lipoproteins as a function of apolipoprotein E genotype. Ann Neurol. 2000; 48(2):201-10. View

Une K, Takei Y, Tomita N, Asamura T, Ohrui T, Furukawa K . Adiponectin in plasma and cerebrospinal fluid in MCI and Alzheimer's disease. Eur J Neurol. 2010; 18(7):1006-9. DOI: 10.1111/j.1468-1331.2010.03194.x. View

10.

Pillai A, Terry Jr A, Mahadik S . Differential effects of long-term treatment with typical and atypical antipsychotics on NGF and BDNF levels in rat striatum and hippocampus. Schizophr Res. 2006; 82(1):95-106. DOI: 10.1016/j.schres.2005.11.021. View

11.

Combs T, Berg A, Rajala M, Klebanov S, Iyengar P, Jimenez-Chillaron J . Sexual differentiation, pregnancy, calorie restriction, and aging affect the adipocyte-specific secretory protein adiponectin. Diabetes. 2003; 52(2):268-76. DOI: 10.2337/diabetes.52.2.268. View

12.

Leyhe T, Eschweiler G, Stransky E, Gasser T, Annas P, Basun H . Increase of BDNF serum concentration in lithium treated patients with early Alzheimer's disease. J Alzheimers Dis. 2009; 16(3):649-56. DOI: 10.3233/JAD-2009-1004. View

13.

Di Domenico M, Scumaci D, Grasso S, Gaspari M, Curcio A, Oliva A . Biomarker discovery by plasma proteomics in familial Brugada Syndrome. Front Biosci (Landmark Ed). 2013; 18(2):564-71. DOI: 10.2741/4120. View

14.

Yu H, Kuo H, Huang E, Liang C, Hwang K, Lin I . Plasma clusterin levels in predicting the occurrence of coronary artery lesions in patients with Kawasaki disease. Pediatr Cardiol. 2010; 31(8):1151-6. DOI: 10.1007/s00246-010-9769-7. View

15.

Marshall F, de Blieck E, Mink J, Dure L, Adams H, Messing S . A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology. 2005; 65(2):275-9. DOI: 10.1212/01.wnl.0000169019.41332.8a. View

16.

Hu W, Chen-Plotkin A, Arnold S, Grossman M, Clark C, Shaw L . Novel CSF biomarkers for Alzheimer's disease and mild cognitive impairment. Acta Neuropathol. 2010; 119(6):669-78. PMC: 2880811. DOI: 10.1007/s00401-010-0667-0. View

17.

Trajkovska V, Marcussen A, Vinberg M, Hartvig P, Aznar S, Knudsen G . Measurements of brain-derived neurotrophic factor: methodological aspects and demographical data. Brain Res Bull. 2007; 73(1-3):143-9. DOI: 10.1016/j.brainresbull.2007.03.009. View

18.

Pitas R, Boyles J, Lee S, Foss D, Mahley R . Astrocytes synthesize apolipoprotein E and metabolize apolipoprotein E-containing lipoproteins. Biochim Biophys Acta. 1987; 917(1):148-61. DOI: 10.1016/0005-2760(87)90295-5. View

19.

Schwarz E, Guest P, Rahmoune H, Wang L, Levin Y, Ingudomnukul E . Sex-specific serum biomarker patterns in adults with Asperger's syndrome. Mol Psychiatry. 2010; 16(12):1213-20. DOI: 10.1038/mp.2010.102. View

20.

Michlmayr A, Bachleitner-Hofmann T, Baumann S, Marchetti-Deschmann M, Rech-Weichselbraun I, Burghuber C . Modulation of plasma complement by the initial dose of epirubicin/docetaxel therapy in breast cancer and its predictive value. Br J Cancer. 2010; 103(8):1201-8. PMC: 2967072. DOI: 10.1038/sj.bjc.6605909. View