H1 tau haplotype-related genomic variation at 17q21.3 as an Asian heritage of the European Gypsy population

Álmos, P.Z.; Horváth, Szatmár; Czibula, Ágnes; Raskó, István; Sipos, Botond; Bihari, Péter; Béres, Judit; Juhász, Anna; Janka, Zoltán; Kálmán, János

doi:10.1038/hdy.2008.70

Cited by 13 publications

(5 citation statements)

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“…A genome-wide association (GWA) study for sporadic PD cases in Europe confirmed that MAPT is closely linked to sporadic PD ( 26 ). MAPT is divided into two haplogroups called H1 and H2 based on whether the gene is in the inverted orientation ( 27 ). A meta-analysis in Caucasian populations reported that the H2 haplotype is more relevant to PD than the H1 haplotype, as the risk of suffering from PD is lower in Caucasians with the H2 haplotype ( 28 ).…”

Section: Assembled Tau In Pdmentioning

confidence: 99%

Tau Pathology in Parkinson's Disease

et al. 2018

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Tau protein—a member of the microtubule-associated protein family—is a key protein involved in many neurodegenerative diseases. Tau pathology in neurodegenerative diseases is characterized by pathological tau aggregation in neurofibrillary tangles (NFTs). Diseases with this typical pathological feature are called tauopathies. Parkinson's disease (PD) was not initially considered to be a typical tauopathy. However, recent studies have demonstrated increasing evidence of tau pathology in PD. A genome-wide association (GWA) study indicated a potential association between tauopathy and sporadic PD. The aggregation and deposition of tau were also observed in ~50% of PD brains, and it seems to be transported from neuron to neuron. The aggregation of NFTs, the abnormal hyperphosphorylation of tau protein, and the interaction between tau and alpha-synuclein may all contribute to the cell death and poor axonal transport observed in PD and Parkinsonism.

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Section: Assembled Tau In Pdmentioning

confidence: 99%

Tau Pathology in Parkinson's Disease

et al. 2018

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“…Tau protein is encoded by a single gene comprising 16 exons [105, 106]. Exons 2, 3, and 10 undergo alternative splicing; however, exon 3 is expressed only in the presence of exon 2, thus yielding 6 isoforms.…”

Section: Vesicle Trafficking Dysfunctionmentioning

confidence: 99%

Lysosomal Fusion Dysfunction as a Unifying Hypothesis for Alzheimer's Disease Pathology

Funk

Kuret²

2012

International Journal of Alzheimer's Disease

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Alzheimer's disease is characterized pathologically by extracellular senile plaques, intracellular neurofibrillary tangles, and granulovacuolar degeneration. It has been debated whether these hallmark lesions are markers or mediators of disease progression, and numerous paradigms have been proposed to explain the appearance of each lesion individually. However, the unfaltering predictability of these lesions suggests a single pathological nidus central to disease onset and progression. One of the earliest pathologies observed in Alzheimer's disease is endocytic dysfunction. Here we review the recent literature of endocytic dysfunction with particular focus on disrupted lysosomal fusion and propose it as a unifying hypothesis for the three most-studied lesions of Alzheimer's disease.

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“…There are two common haplotypes spanning the entire MAPT coding region ensued from an ancestral inversion of 900 kb on chromosome 17q21: the directly oriented H1 and the inverted H2 [ 56 ]. Whereas the H1 haplotype is common in all populations, the H2 haplotype is thought to be exclusively present in populations of Caucasian origin, rare in Africans and nearly absent in Americans and East Asians [ 57 ]. Data from GWAS studies and meta-analyses supported the common MAPT H1 haplotype as a susceptibility factor for sporadic PD with an OR of approximately 1.5 [ 49 , 58 , 59 , 60 ].…”

Section: The Genetic Landscape Of Parkinson’s Disease: a Brief Overviewmentioning

confidence: 99%

Psychosis in Parkinson’s Disease: A Lesson from Genetics

Angelopoulou

Bougea

Papageorgiou

et al. 2022

Genes

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Psychosis in Parkinson’s disease (PDP) represents a common and debilitating condition that complicates Parkinson’s disease (PD), mainly in the later stages. The spectrum of psychotic symptoms are heterogeneous, ranging from minor phenomena of mild illusions, passage hallucinations and sense of presence to severe psychosis consisting of visual hallucinations (and rarely, auditory and tactile or gustatory) and paranoid delusions. PDP is associated with increased caregiver stress, poorer quality of life for patients and carers, reduced survival and risk of institutionalization with a significant burden on the healthcare system. Although several risk factors for PDP development have been identified, such as aging, sleep disturbances, long history of PD, cognitive impairment, depression and visual disorders, the pathophysiology of psychosis in PD is complex and still insufficiently clarified. Additionally, several drugs used to treat PD can aggravate or even precipitate PDP. Herein, we reviewed and critically analyzed recent studies exploring the genetic architecture of psychosis in PD in order to further understand the pathophysiology of PDP, the risk factors as well as the most suitable therapeutic strategies.

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H1 tau haplotype-related genomic variation at 17q21.3 as an Asian heritage of the European Gypsy population

Cited by 13 publications

References 30 publications

Tau Pathology in Parkinson's Disease

Tau Pathology in Parkinson's Disease

Lysosomal Fusion Dysfunction as a Unifying Hypothesis for Alzheimer's Disease Pathology

Psychosis in Parkinson’s Disease: A Lesson from Genetics

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