2018-09-14

Essential Role of BRCA2 in Ovarian Development and Function.

abstract

[title]

Essential Role of BRCA2 in Ovarian Development and Function.
卵巣の発育及びその機能におけるBRCA2の本質的役割

[author]

Weinberg-Shukron A, et al. N Engl J Med. 2018.

[Abstract]
The causes of ovarian dysgenesis remain incompletely understood. Two sisters with XX ovarian dysgenesis carried compound heterozygous truncating mutations in the BRCA2 gene that led to reduced BRCA2 protein levels and an impaired response to DNA damage, which resulted in chromosomal breakage and the failure of RAD51 to be recruited to double-stranded DNA breaks. The sisters also had microcephaly, and one sister was in long-term remission from leukemia, which had been diagnosed when she was 5 years old. Drosophila mutants that were null for an orthologue of BRCA2 were sterile, and gonadal dysgenesis was present in both sexes. These results revealed a new role for BRCA2 and highlight the importance to ovarian development of genes that are critical for recombination during meiosis. (Funded by the Israel Science Foundation and others.).

[URL]

https://www.ncbi.nlm.nih.gov/m/pubmed/30207912/?i=3&from=nejm%20AND%20hasabstract

[Memo]

■知らない

ovarian 卵巣の

dysgenesis （性腺の）発育不全

compound 混ぜ合わせる

heterozygous ヘテロ接合

truncating 切り縮める、の現在分詞

breakage 破損

microcephaly 小頭症

remission 軽減、緩和

orthologue 相同分子種（共通の祖先を持つ遺伝子）

sterile 不妊の

meiosis 減数分裂

■使いたい

remain incompletely understood

Two sisters with XX ovarian dysgenesis carried

X lead to reduced A protein levels

~, which had been diagnosed when she was 5 years old

These results revealed a new role for X

2018-09-14

Pubmedの検索条件

重要メモ

[Pubmedで日常的に使う検索式 / NEJMのabstract検索]

nejm AND hasabstract

[Pubmedで気合いの入った時に使う検索式 / 5大ジャーナルのabstract検索]

( (N Engl J Med[jo]) OR ("Lancet"[jo]) OR (BMJ[jo]) OR (JAMA[jo]) OR (Ann Intern Med[jo]) ) AND hasabstract

*随時更新予定

2018-09-14

Sudden death in Parkinson's disease: Unjustifiably forgotten.

abstract

[title]

Sudden death in Parkinson's disease: Unjustifiably forgotten.

パーキンソン病における突然死：不当に忘れ去られたもの。

[Abstract]
Parkinson's disease (PD) is one of the most common age-related neurodegenerative disorders. Epidemiological studies have demonstrated that PD is accompanied by high rates of premature death compared with the general population. The main causes of deaths are related to pneumonia and cardiovascular diseases.

Importantly, it has also been recognized that some PD patients may eventually die unexpectedly and suddenly, referred as Sudden Unexpected Death in Parkinson's Disease (SUDPAR). Despite on-going PD research, there are still deficits in our knowledge about the risk factors, mechanisms and prevention of SUDPAR. By some means, current evidence suggests cardiac abnormalities and autonomic dysfunction plays an important role in SUDPAR. Thus, SUDPAR in patients with PD is a real phenomenon and translational studies should be carried out with the aim of elucidating this phenomenon.

[URL]
https://www.ncbi.nlm.nih.gov/m/pubmed/30190101/?i=1&from=nejm%20AND%20hasabstract

[Memo]

■知らない

Unjustifiably 不当に

Epidemiological 疫学上の

on-going 進行中の

autonomic 自律神経系の

elucidating 明晰にする(の進行形)

■使いたい

X have demonstrated that ~

with the general population

be related to