Association of HLA DRB1-DQB1 Haplotypes with the Risk for Neuromyelitis Optica among South Indians

Kanikannan, Meena A; Kathgave, Rakesh; Yareeda, Sireesha; Katkam, Shiva Krishna; Kumaraswamy, Konda; Kutala, Vijay Kumar

doi:10.4103/0028-3886.355130

Cited by 1 publication

(1 citation statement)

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“…DRD4, is a subtype of the dopamine G-protein coupled receptor and is used as a target for medications used to treat schizophrenia and Parkinson’s Disease[91] and was observed as differentially expressed in this study (log 2 Fold Change = -.97, padj = .002). Additionally, variants in DRD4 have been identified as a risk factor for PD diagnosis in a sample of patients from Eastern India[111] and further, DRD4 has been connected to the development of neuropsychiatric disorders such as attention deficit disorder and schizophrenia[112]. APOE, or Apolipoprotein E, functions to transport lipids in the plasma associating with chylomicrons to assist with their clearance from the serum[113] and is observed to be differentially expressed in this analysis (log 2 Fold Change = −1.2, padj=.04).…”

Section: Resultsmentioning

confidence: 99%

The role of ADAR editing and nonsense-mediated decay in Parkinson’s Disease

Mercer,

Nair,

Tariq

et al. 2024

Preprint

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Parkinson's Disease (PD) is a multifactorial disease with heterogenous phenotypes that vary across individuals, as well as by age and sex. Therefore, it is likely that multiple interacting factors, such as environmental influences and aging, as well as genetic factors, including dynamic RNA (ADAR, Adenosine Deaminases Acting on RNA) editing, may play a role in PD pathology. In this analysis of 317 transcriptomes of healthy controls, PD and prodromal patients aged 65 years or older, from Parkinson's Project Markers Initiative dataset, we observe differences in ADAR expression, number of putative ADAR edits, editing index, and the number of high and moderate impact edits between control groups and diseased samples, particularly when ADAR editing is associated with nonsense-mediated decay (NMD). Likewise, differentially expressed genes between comparison groups were linked to NMD-related pathways. NMD is an important process in detecting deleterious nonsense sequences in mRNA transcripts and eliminating them from the cell. Thus, NMD regulation serves an important role in neurodevelopment, neural differentiation, and neural maturation. RNA misprocessing, which includes dysregulation of NMD, is known to play an important role in neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia. Our results suggest that NMD may also be an important factor in PD physiology.

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