Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson’s disease in patients of Malay ancestry

Lim, Jia Lun; Ng, Ebonne Yulin; Lim, Shen‐Yang; Tan, Ai Huey; Abdul-Aziz, Zariah; Ibrahim, Khairul Azmi; Gopalai, Aroma Agape; Tay, Yi Wen; Vijayanathan, Yuganthini; Toh, Tzi Shin; Lim, Soo Kun; Bee, Ping Chong; Puvanarajah, Santhi Datuk; Shanthi, Vissa; Looi, Irene; Lim, Thien Thien; Eow, Gaik Bee; Cheah, Wee Kooi; Tan, Eng‐King; Ahmad‐Annuar, Azlina

doi:10.1007/s10072-021-05056-x

Cited by 5 publications

(1 citation statement)

References 21 publications

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“…GWAS in different populations identified the GAK/DGKQ/IDUA region as one of the top three risk loci for PD [ 31 , 119 , 138 , 145 , 169 ]. This region harbors the gene that encodes for the enzyme diacylglycerol kinase theta (DGKQ) that catalyzes the regeneration of phosphatidylinositol from diacylglycerol.…”

Section: Parkinson’s Diseasementioning

confidence: 99%

More than meets the eye in Parkinson’s disease and other synucleinopathies: from proteinopathy to lipidopathy

Flores-León

Outeiro

2023

Acta Neuropathol

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The accumulation of proteinaceous inclusions in the brain is a common feature among neurodegenerative diseases such as Alzheimer’s disease, Parkinson’s disease (PD), and dementia with Lewy bodies (DLB). The main neuropathological hallmark of PD and DLB are inclusions, known as Lewy bodies (LBs), enriched not only in α-synuclein (aSyn), but also in lipid species, organelles, membranes, and even nucleic acids. Furthermore, several genetic risk factors for PD are mutations in genes involved in lipid metabolism, such as GBA1, VSP35, or PINK1. Thus, it is not surprising that mechanisms that have been implicated in PD, such as inflammation, altered intracellular and vesicular trafficking, mitochondrial dysfunction, and alterations in the protein degradation systems, may be also directly or indirectly connected through lipid homeostasis. In this review, we highlight and discuss the recent evidence that suggests lipid biology as important drivers of PD, and which require renovated attention by neuropathologists. Particularly, we address the implication of lipids in aSyn accumulation and in the spreading of aSyn pathology, in mitochondrial dysfunction, and in ER stress. Together, this suggests we should broaden the view of PD not only as a proteinopathy but also as a lipidopathy.

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