The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1
| Autor: | Yoshihisa Takiyama, Tetsuharu Kako, Hidefumi Ito, Takuya Matsushita, Kazuaki Kanai, Y Mizuno, Yusuke Sakiyama, Nagako Murase, Tsukasa Saito, Toshiki Nakahara, Masaaki Yoshikawa, Kotaro Ogaki, Manabu Funayama, Yuko Nagara, Akira Tamaoka, Mitsuto Sato, Akio Iwasaki, Asako Yoritaka, Kenya Nishioka, Kouichi Nakao, Mieko Ogino, Masashi Takanashi, Mikiko Tada, Motonori Takamiya, Yoshiaki Furukawa, Tatsuya Hattori, Kenichi Kashihara, Hiroyo Yoshino, Yuanzhe Li, Yuta Ichinose, Hiroaki Yokote, Kazuya Nokura, Nobutaka Hattori, Yoshiki Sekijima, Hiroyuki Todo, Fumiaki Tanaka, Takeshi Fujimoto, Yoshiaki Nakayama, Kiyotaka Nakamagoe, Hitoshi Aizawa, Arisa Hayashida, Yuji Tomizawa, Atsuhito Fuse, Hiroshi Shoji, Nobutoshi Morimoto, Kensuke Daida, Akio Mori, Masayo Morita, Aya Ikeda, Yuko Hattori, Takashi Kimura, Kazuhito Tsuruta, Hirofumi Kusaka, Hideo Hara |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Male Aging medicine.medical_specialty Heterozygote Younger age Parkinson's disease PINK1 Disease Gastroenterology 03 medical and health sciences Exon symbols.namesake 0302 clinical medicine Gene Frequency Internal medicine medicine Tensin Humans Age of Onset Allele frequency Genetic Association Studies Sanger sequencing business.industry General Neuroscience Myocardium Homozygote Age Factors Mediastinum Myocardial Perfusion Imaging Genetic Variation Heart Parkinson Disease medicine.disease 030104 developmental biology symbols Female Neurology (clinical) Geriatrics and Gerontology business Protein Kinases 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Neurobiology of aging. 97 |
| ISSN: | 1558-1497 |
| Popis: | To investigate the prevalence and genotype-phenotype correlations of phosphatase and tensin homolog induced putative kinase 1 (PINK1) variants in Parkinson's disease (PD) patients, we analyzed 1700 patients (842 familial PD and 858 sporadic PD patients from Japanese origin). We screened the entire exon and exon-intron boundaries of PINK1 using Sanger sequencing and target sequencing by Ion torrent system. We identified 30 patients with heterozygous variants, 3 with homozygous variants, and 3 with digenic variants of PINK1-PRKN. Patients with homozygous variants presented a significantly younger age at onset than those with heterozygous variants. The allele frequency of heterozygous variants in patients with age at onset at 50 years and younger with familial PD and sporadic PD showed no differences. [123I]meta-iodobenzylguanidine (MIBG) myocardial scintigraphy indicated that half of patients harboring PINK1 heterozygous variants showed a decreased heart to mediastinum ratio (12/23). Our findings emphasize the importance of PINK1 variants for the onset of PD in patients with age at onset at 50 years and younger and the broad spectrum of clinical symptoms in patients with PINK1 variants. |
| Databáze: | OpenAIRE |
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