Category: Parkinsonism, Atypical: MSA
Objective: To investigate CHCHD2 mRNA expression of erythrocyte in patients with multiple system atrophy (MSA).
Background: Coiled-coil-helix-coiledcoil-helix domain containing 2 (CHCHD2) are reported to be associate with Parkinson’s disease(PD) due to mitochondria dysfunction, but their role in multiple system atrophy (MSA) remains unexplored. Given the potential pathological role of erythrocyte abnormality in synucleinopathy, we investigate CHCHD2 mRNA expression of erythrocyte in MSA.
Method: Seventy-seven MSA patients (59 probable MSA and 18 possible MSA) and 133 healthy individuals were recruited from the Department of Neurology in Beijing Tiantan Hospital, Capital Medical University. Levels of CHCHD2 mRNA in erythrocytes were measured by Nanostring multiplex gene expression technique, which allows direct counting of mRNA and could provide accurate results.
Results: The demographic data and clinical characteristics of the MSA and healthy control groups are listed in Table 1. There was no difference in mean age and sex distribution between patients with MSA and healthy controls. Similarly, there were no significant differences in mean age, sex distribution, disease duration and H&Y score between MSA-P and MSA-C groups. CHCHD2 mRNA levels were significantly reduced in MSA group compared with that in the healthy control group (Table 1). CHCHD2 mRNA levels between MSA-P and MSA-C groups were not statistically different (Table 1). CHCHD2 mRNA levels in patients with MSA were not correlated significantly with age, age at onset, disease duration or H&Y score. CHCHD2 mRNA levels discriminated MSA from healthy controls with a sensitivity of 94.5% and a specificity of 21.8% (cut-off < 67.49, AUC=0.588).
Conclusion: Our pilot study suggests that CHCHD2 mRNA were expressed in mature RBC and these levels were decreased in patients with MSA. Large-scale and prospective studies are needed to validate our findings in patients with MSA and related synucleinopathies.
To cite this abstract in AMA style:
G.l Liu, X.d Liu, T. Feng. CHCHD2 mRNA levels in erythrocyte are reduced in patients with multiple system atrophy [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/chchd2-mrna-levels-in-erythrocyte-are-reduced-in-patients-with-multiple-system-atrophy/. Accessed May 18, 2025.« Back to MDS Virtual Congress 2020
MDS Abstracts - https://www.mdsabstracts.org/abstract/chchd2-mrna-levels-in-erythrocyte-are-reduced-in-patients-with-multiple-system-atrophy/