Non-synonymous GIGYF2 variants in Parkinson’s disease from two Asian populations

Tan, Eng‐King; Lin, Chin-Hslen; Tai, Chun‐Hwei; Tan, Louis C.S.; Chen, Meng‐Ling; Li, R.; Lim, Hui-Qin; Ratnagopal, Pavanni; Yuen, Yin; Prakash, Kumar M.; Zhao, Yongxiang; Wu, Ruey‐Meei

doi:10.1007/s00439-009-0678-x

Cited by 18 publications

(10 citation statements)

References 21 publications

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“…Variants within several of these genes or loci modify the risk to develop PD or parkinsonism, but this property is outside the scope of this review article. *Mutations in GRB10-interacting GYF protein 2 (GIGYF2, PARK11) were found in PD families in 2008 [134], but subsequent studies found mutations in controls or not cosegregating with the PD phenotype in families [135][136][137][138][139][140][141]. **Mutations in HtrA serine peptidase 2 (HTRA2, Omi/HtrA2, PARK13) were found in another German family [142], but mutations were subsequently also identified in healthy control subjects [143,144].…”

Section: Discussionmentioning

confidence: 99%

Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations

Puschmann¹

2013

Parkinsonism & Related Disorders

211

141

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Mutations in seven genes are robustly associated with autosomal dominant (SNCA, LRRK2, EIF4G1, VPS35) or recessive (parkin/PARK2, PINK1, DJ1/PARK7) Parkinson's disease (PD) or parkinsonism. Changes in a long list of additional genes have been suggested as causes for parkinsonism or PD, including genes for hereditary ataxias (ATXN2, ATXN3, FMR1), frontotemporal dementia (C9ORF72, GRN, MAPT, TARDBP), DYT5 (GCH1, TH, SPR), and others (ATP13A2, CSF1R, DNAJC6, FBXO, GIGYF2, HTRA2, PLA2G6, POLG, SPG11, UCHL1). This review summarizes the clinical features of diseases caused by mutations in these genes, and their frequencies. Point mutations and multiplications in SNCA cause cognitive or psychiatric symptoms, parkinsonism, dysautonomia and myoclonus with widespread alpha-synuclein pathology in the central and peripheral nervous system. LRRK2 mutations may lead to a clinical phenotype closely resembling idiopathic PD with a puzzling variety in neuropathology. Mutations in parkin/PARK2, PINK1 or DJ1/PARK7 may cause early-onset parkinsonism with a low risk for cognitive decline and a pathological process usually restricted to the brainstem. Carriers of mutations in the other genes may develop parkinsonism with or without additional symptoms, but rarely a disease resembling PD. The pathogenicity of several mutations remains unconfirmed. Although some mutations occur with high frequency in specific populations, worldwide all are very rare. The genetic cause of the majority of patients with sporadic or hereditary PD remains unknown in most populations. Clinical genetic testing is useful for selected patients. Testing strategies need to be adapted individually based on clinical phenotype and estimated frequency of the mutation in the patient's population.

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Section: Discussionmentioning

confidence: 99%

Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations

Puschmann¹

2013

Parkinsonism & Related Disorders

211

141

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“…Bras et al, (2009) [25] found also the p.N457T variant in a Portuguese control individual. On their turn, Tan et al, (2009) [27] identified 4 different heterozygous mutations in GIGYF2 (p.A2G, p.K421R, p.I768V and p.H1304L) in 7 of 450 Asian patients with PD, and not in 400 controls. None of the mutations reported by Lautier et al, (2008) [22] were found in this study [27].…”

Section: Gigyf2 (Park11)mentioning

confidence: 99%

Other Proteins Involved in Parkinson's Disease and Related Disorders

Cardona

Pérez‐Tur

2017

CPPS

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In order to explain the molecular causes of Parkinson's Disease (PD) it is important to understand the effect that mutations described as causative of the disease have at the functional level. In this special issue, several authors have been reviewing the effects in PD and other parkinsonisms of mutations described in LRRK2, α-synuclein, PINK1-Parkin-DJ-1, UCHL1, ATP13A2, GBA, VPS35, FBOX7 and HTRA2. In this review, we compile the knowledge about other proteins with a more general role in neurodegenerative diseases (MAPT) or for which less data is available due to its recent discovery (EIF4G1, DNAJC13), the lack of structural or functional data (as for PLA2G6 or DNAJC6), or even their doubtful association with the disease (as for GIGYF2, SYNJ1 and SPR). Also the cellular pathways involved in this disease are reviewed, with the goal of having an overview of the effects on the proteins and its possible role in the disease. This knowledge could also serve as the basis for designing tools that may potentially be used as a treatment for the disease, such as inhibitory or activating molecules, as well as other involved in regulating the half-life of the proteins involved.

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“…However, in recent months, at least 10 replication studies [6–15] including the latest one by Samaranch et al. [15] in this journal have provided conflicting data to cast considerable doubt on the causal role of GIGYF2 .…”

Section: Summary Of Gigyf2 Studies In Parkinson’s Disease (Pd)mentioning

confidence: 99%

“…However, in recent months, at least 10 replication studies [6][7][8][9][10][11][12][13][14][15] including the latest one by Samaranch et al [15] in this journal have provided conflicting data to cast considerable doubt on the causal role of GIGYF2. For the benefit of easy reference, we have collated the main findings of these replication studies in Table 1.…”

mentioning

confidence: 99%