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PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. | LitMetric

AI Article Synopsis

  • Heterozygous rare variants in the PINK1 gene have been found in both Parkinson's disease patients and healthy individuals, but their role as significant risk factors for developing the disease is still unclear.
  • A study of over 1,100 patients and 400 controls revealed that the occurrence of these variants was similar in both groups, indicating no substantial difference in frequency.
  • Clinical traits in individuals with these variants were similar to those of typical patients, showing later disease onset but more severe progression, suggesting that these variants contribute marginally to Parkinson’s risk compared to more critical mutations.

Article Abstract

Heterozygous rare variants in the PINK1 gene, as well as in other genes causing autosomal recessive parkinsonism, have been reported both in patients and healthy controls. Their pathogenic significance is uncertain, but they have been suggested to represent risk factors to develop Parkinson disease (PD). The few large studies that assessed the frequency of PINK1 heterozygotes in cases and controls yielded controversial results, and the phenotypic spectrum is largely unknown. We retrospectively analyzed the occurrence of PINK1 heterozygous rare variants in over 1100 sporadic and familial patients of all onset ages and in 400 controls. Twenty patients and 6 controls were heterozygous, with frequencies (1.8% vs. 1.5%) not significantly different in the two groups. Clinical features of heterozygotes were indistinguishable to those of wild-type patients, with mean disease onset 10 years later than in carriers of two mutations but worse disease progression. A meta-analysis indicated that, in PINK1 heterozygotes, the PD risk is only slightly increased with a non significant odds ratio of 1.62. These findings suggest that PINK1 heterozygous rare variants play only a minor susceptibility role in the context of a multifactorial model of PD. Hence, their significance should be kept distinct from that of homozygous/compound heterozygous mutations, that cause parkinsonism inherited in a mendelian fashion.

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Source
http://dx.doi.org/10.1002/humu.20719DOI Listing

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