Papers - KAWANISHI Chiaki

Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu(UUR)) mutation

Hideki Onishi, Tokiji Hanihara, Naoya Sugiyama, Chiaki Kawanishi, Eizo Iseki, Yasuko Maruyama, Yoshiteru Yamada, Kenji Kosaka, Saburo Yagishita, Hisahiko Sekihara, Shinobu Satoh

Journal of Medical Genetics   35 ( 3 ) 255 - 257  1998  [Refereed]

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We report on pancreatic exocrine dysfunction in families that have the mitochondrial tRNA(Leu(UUR)) gene mutation. These families exhibited maternally inherited diabetes mellitus (DIM) and an A to G substitution at nt 3243 of the mitochondrial tRNA(Leu(UUR)) gene (A3243G mutation). Pancreatic necropsy samples from one proband showed accumulation of degenerated mitochondria in pancreatic acinar cells. Pancreatic exocrine dysfunction was recognised by a functional pancreatic study. This study indicates that exocrine pancreatic dysfunction may be associated with the A3243G mutation.

PubMed

Depressive disorder due to mitochondrial transfer RNA(Leu(UUR)) mutation

Hideki Onishi, Chiaki Kawanishi, Tae Iwasawa, Hitoshi Osaka, Tokiji Hanihara, Ken Inoue, Yoshiteru Yamada, Kenji Kosaka

Biological Psychiatry   41 ( 11 ) 1137 - 1139  1997.06  [Refereed]

DOI PubMed

A new restriction-site polymorphism in the human proteolipid protein gene

Chiaki Kawanishi, Hitoshi Osaka, Ken Inoue, Hideki Onishi, Yoshiteru Yamada, Kenji Kosaka

Clinical Genetics   51 ( 1 ) 75  1997  [Refereed]

PubMed

A case of Turner syndrome with schizphrenia: Genetic relationship between turner syndrome and psychosis

Chiaki Kawanishi, Masaaki Kono, Hideki Onishi, Norio Ishii, Kazuhiko Ishii

Psychiatry and Clinical Neurosciences ( Blackwell Publishing )  51 ( 2 ) 83 - 85  1997  [Refereed]

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An 82-year-old woman with Turner syndrome and schizophrenia, and her 46- year-old daughter with schizophrenia are described, 45X/46XX chromosomal mosaicism was identified in the peripheral leukocytes of the mother, who showed several Turner dysmorphisms and cavum septi pellucidum in the brain. She had a normal reproductive life-span. The daughter resembled the mother in terms of schizophrenic symptoms, but she did not show any signs of Turner syndrome and the genetic relationship with psychosis are discussed.

DOI PubMed

Neuropathological evaluation and apolipoprotein E gene polymorphism analysis in diffuse Lewy body disease

Chiaki Kawanishi, Kyoko Suzuki, Toshinari Odawara, Eizo Iseki, Hideki Onishi, Tomohiro Miyakawa, Yoshiteru Yamada, Kenji Kosaka, Naoki Kondo, Takayuki Yamamoto

Journal of the Neurological Sciences ( Elsevier B.V. )  136 ( 1-2 ) 140 - 142  1996  [Refereed]

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We performed a quantitative neuropathological investigation of senile plaques and neurofibrillary tangles in the brains of 14 Japanese patients with diffuse Lewy body disease (DLBD), and examined apolipoprotein E (APOE) gene polymorphism in these patients. Most DLBD brains had as many senile plaques as those with Alzheimer-type dementia (ATD), but fewer neurofibrillary tangles. The APOE ε4 allele frequency in DLBD was 39.3%, similar to that previously reported in pathologically diagnosed ATD. DLBD and ATD are. clinically and pathologically distinct, but may have common mechanisms with regard to the formation of amyloid deposition based on these findings. Future investigation of the pure form of DLBD may clarify the association between Lewy body dementia and APOE.

DOI PubMed