Article
Genetics & Heredity
Fengyu Che, Jiangang Zhao, Yujuan Zhao, Zhi Wang, Liyu Zhang, Ying Yang
Summary: This study reports a Chinese family with autosomal dominant non-syndromic thrombocytopenia, in which a novel heterozygous missense variant in the CYCS gene was identified using whole exome sequencing and Sanger sequencing. The findings enrich the mutation spectrum of the CYCS gene and provide a foundation for future studies on the correlation between genotype and phenotype.
FRONTIERS IN GENETICS
(2022)
Article
Chemistry, Analytical
Bo Liu, Jingjing Li, Ping Zhou, Wei Pan, Na Li, Bo Tang
Summary: This study developed a nanoprobe based on the gold-selenium bond for fluorescence imaging of apoptotic signaling molecules in real-time, showing good specificity and stability. The probe can avoid interference from biological thiols and image the sequential changes of markers during cell apoptosis.
ANALYTICAL CHEMISTRY
(2021)
Article
Multidisciplinary Sciences
Agnes Moe, Justin Di Trani, John L. Rubinstein, Peter Brzezinski
Summary: Energy conversion in aerobic organisms involves electron transfer from low-potential donors to dioxygen through the membrane-bound respiratory chain. The formation of supercomplex CIII2CIV1/2 facilitates electron transfer by two-dimensional diffusion of cyt. c, increasing QH(2):O-2 oxidoreductase activity and suggesting a regulatory role for supercomplex formation in the respiratory chain.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Chemistry, Multidisciplinary
Mingle Li, Kalayou Hiluf Gebremedhin, Dandan Ma, Zhongji Pu, Tao Xiong, Yunjie Xu, Jong Seung Kim, Xiaojun Peng
Summary: The article introduces a conditionally activatable photoredox catalysis method, which achieves more effective tumor treatment through site-specific photoredox. This approach enables control of photoresponsivity while ensuring biocompatibility and safety.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
(2022)
Article
Agriculture, Multidisciplinary
Bo Zou, Qianqian Yu, Lele Shao, Yingying Sun, Xingmin Li, Ruitong Dai
Summary: Lipid molecules play a crucial role in mitochondria-mediated apoptosis. This study reveals that the levels of mitochondrial lipids increase during early postmortem, accelerating apoptosis in beef muscle. The psoas major muscle has a higher degree of apoptosis and more severe muscle oxidation and antioxidant system damage compared to the longissimus lumborum muscle.
JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY
(2022)
Article
Multidisciplinary Sciences
Luke E. Formosa, Shadi Maghool, Alice J. Sharpe, Boris Reljic, Linden Muellner-Wong, David A. Stroud, Michael T. Ryan, Megan J. Maher
Summary: COA7 is a crucial assembly factor for the biogenesis of mitochondrial complex IV. It interacts with SCO1 and SCO2 to catalyze copper relay and reduction of disulfide bonds, which are important for complex IV assembly.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Biochemistry & Molecular Biology
Rashmita Das, Ashutosh Kumar, Ritesh Dalai, Chandan Goswami
Summary: The importance of TRPV4 in physiology and disease has been studied. It has been found that TRPV4 interacts with Cytochrome C in a calcium-sensitive manner, and this interaction is affected by different mutations and the presence of different metal ions.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Review
Biochemistry & Molecular Biology
Shuting Guan, Li Zhao, Ruiyun Peng
Summary: Mitochondrial supercomplexes, consisting of enzyme complexes and electron carriers, play a crucial role in improving the efficiency of mitochondrial respiratory chain and maintaining cellular metabolism homeostasis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biophysics
K. B. Csomo, B. B. Alasztics, A. P. Sandor, A. A. Belik, G. Varga, A. Hrabak, Z. Kukor
Summary: The study found that pH, Ca2+, Mg2+, and anionic phospholipids can influence the reduction of cytochrome c by glutathione, and mitochondrial oxygen consumption is also affected. Glutathione can increase mitochondrial oxygen consumption under specific conditions, and decreased levels of glutathione are associated with apoptosis.
JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
(2022)
Article
Cell Biology
Viktoria Pevna, Georges Wagnieres, Daniel Jancura, Veronika Huntosova
Summary: Photobiomodulation (PBM) therapy enhances photodynamic therapy (PDT) efficacy by changing the distribution and concentration of protein kinase Cd (PKCd) in cancer cells and inducing phosphorylation in specific organelles. Despite the neutralization by autophagy, PDT can effectively exploit this process to generate apoptosis in cancer treatment, improving treatment efficacy and opening up new prospects.
Article
Biochemistry & Molecular Biology
Cat McCann, Michael Quinteros, Ifeoluwa Adelugba, Marcos N. Morgada, Aida R. Castelblanco, Emily J. Davis, Antonio Lanzirotti, Sarah J. Hainer, Alejandro J. Vila, Juan G. Navea, Teresita Padilla-Benavides
Summary: This study reveals the important role of mitochondrial phosphate transporter PiC2 in copper transport and delivery to mitochondria, promoting the differentiation of primary myoblasts.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Article
Chemistry, Analytical
Zan Li, Jiangkun Tan, Chunyu Gao, Zhihao Lu, Jinmao You, Jun-Jie Zhu
Summary: Programmed cell death (PCD) is a controlled physiological process for tissue homeostasis. Apoptosis, the dominant subtype of intracellular PCD, is regulated by mitochondria. By tracing mitochondrial actions, important tools for preclinical therapeutic agent screening can be developed.
ANALYTICAL CHEMISTRY
(2023)
Review
Chemistry, Inorganic & Nuclear
Gonzalo Perez-Mejias, Antonio Diaz-Quintana, Alejandra Guerra-Castellano, Irene Diaz-Moreno, Miguel A. De la Rosa
Summary: The supramolecular arrangement of respiratory complexes into supercomplexes leads to a reduction in distance between cytochrome bc(1) and cytochrome c oxidase, facilitating more efficient electron transfer and control. This allows for a novel mechanistic insight into electron transfer processes, which involves modulation of redox potential and long-range electron transfer through an aqueous solution.
COORDINATION CHEMISTRY REVIEWS
(2022)
Article
Plant Sciences
Aprajita Kumari, Vemula Chandra Kaladhar, Nidhi Yadav, Pooja Singh, Kishorekumar Reddy, Kapuganti Jagadis Gupta
Summary: The location of NO production in mitochondrial cytochrome c oxidase and its role in mitochondrial biogenesis were investigated in Arabidopsis seedlings under osmotic stress and recovery. Osmotic stress reduced growth and mitochondrial number while increasing NO production. Nitrite application stimulated NO production and mitochondrial number in a NO-deficient mutant. COX6b(-)3 and COA6-L subunits were induced during osmotic stress and mutants impaired in these subunits showed reduced NO production and mitochondrial biogenesis. The COX6b-3 and COA6-L subunits interacted with a VQ27 motif-containing protein in the presence of NO, and a vq27 mutant displayed impaired mitochondrial biogenesis.
PLANT CELL AND ENVIRONMENT
(2023)
Article
Genetics & Heredity
Chencheng Yao, Chao Yang, Liangyu Zhao, Peng Li, Ruhui Tian, Huixing Chen, Ying Guo, Yuhua Huang, Erlei Zhi, Jing Zhai, Hongfang Sun, Jianxiong Zhang, Yan Hong, Li Zhang, Zhiyong Ji, Feng Zhang, Zhi Zhou, Zheng Li
Summary: The study identified SHOC1 as the causative gene for human NOA, and showed an autosomal recessive mode of inheritance in NOA caused by SHOC1 deficiency.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Shinichi Kameyama, Takeshi Mizuguchi, Hiromi Fukuda, Lip Hen Moey, Wee Teik Keng, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Naomichi Matsumoto
Summary: The study identified compound heterozygous null variants in the ZNF142 gene in Malaysian siblings, resulting in global developmental delay and epilepsy. These novel variants cause a marked reduction in ZNF142 transcript levels through mRNA decay.
JOURNAL OF HUMAN GENETICS
(2022)
Review
Genetics & Heredity
Tomonori Hara, Yuji Owada, Atsushi Takata
Summary: In this review, the recent advancements in the genetics of bipolar disorder (BD) are summarized, including the discovery of disease-associated loci, improved understanding of BD biology, correlations with other psychiatric disorders and behavioral traits, methods for predicting disease risk and drug response, and the identification of a single gene associated with bipolar disorder and schizophrenia spectrum. However, these findings have not yet had a clear impact on the improvement of clinical psychiatry of BD.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida, Toshiyuki Itai, Yoshiteru Azuma, Eriko Koshimizu, Atsushi Fujita, Biray Erturk, Yoko Hiraki, Gaik-Siew Ch'ng, Mitsuhiro Kato, Nobuhiko Okamoto, Atsushi Takata, Naomichi Matsumoto
Summary: The study integrated copy number variants and single-nucleotide variants data, identifying dozens of new candidate genes for NDDs, including 11 high-confidence candidate genes. This research will contribute to the further discovery of novel genes associated with NDDs.
Article
Psychiatry
Hiroki Kimura, Masahiro Nakatochi, Branko Aleksic, James Guevara, Miho Toyama, Yu Hayashi, Hidekazu Kato, Itaru Kushima, Mako Morikawa, Kanako Ishizuka, Takashi Okada, Yoshinori Tsurusaki, Atsushi Fujita, Noriko Miyake, Tomoo Ogi, Atsushi Takata, Naomichi Matsumoto, Joseph Buxbaum, Norio Ozaki, Jonathan Sebat
Summary: This study indicates that rare variants related to synaptic function are associated with susceptibility to autism spectrum disorder (ASD) in the Japanese population, particularly in neurodevelopmental and synaptic function-related gene sets.
TRANSLATIONAL PSYCHIATRY
(2022)
Review
Genetics & Heredity
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Summary: The SUZ12, EZH2, and EED genes are essential for development and their variants have been associated with various overgrowth syndromes. The clinical manifestations of these syndromes overlap to a large extent, but their prevalence rates differ.
Article
Genetics & Heredity
Rie Seyama, Yuri Uchiyama, Yosuke Kaneshi, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Nobuhiko Okamoto, Naomichi Matsumoto
Summary: TNNI2 at 11p15.5 is responsible for encoding troponin I2, a component of the troponin complex. Distal arthrogryposis (DA) is a genetically heterogeneous disorder characterized by congenital limb contractures. Exome sequencing identified a disease-causing variant in TNNI2 in a Japanese girl with typical DA2b, and a mosaic variant in her asymptomatic father was detected through subsequent targeted sequencing. Our case highlights the importance of careful clinical and genetic evaluation in DA.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Naomichi Matsumoto
Summary: Pontocerebellar hypoplasia (PCH) has 16 subgroups and can be caused by pathogenic variants in as many as 24 genes. PCH type 8 (PCH8) is a rare disorder characterized by severe developmental delay and brain abnormalities. CHMP1A gene variants have been found in PCH8 patients and impair the release of extracellular vesicles, affecting brain development. This study reports a new CHMP1A variant in a PCH8 patient and expands our knowledge of the clinical consequences associated with CHMP1A variants.
JOURNAL OF HUMAN GENETICS
(2023)
Correction
Genetics & Heredity
Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi
JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal-Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, Naomichi Matsumoto
Summary: Autism spectrum disorder (ASD) is caused by a combination of genetic and environmental factors. By analyzing 405 ASD patients, researchers identified disease-causing single-nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variations (CNVs) for molecular diagnoses. They achieved a molecular diagnosis in 16.3% of the patients and found a higher diagnostic rate in females and in simplex cases compared to multiplex families.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Hirona Yamamoto, Hyeon-Cheol Lee-Okada, Masashi Ikeda, Takumi Nakamura, Takeo Saito, Atsushi Takata, Takehiko Yokomizo, Nakao Iwata, Tadafumi Kato, Takaoki Kasahara
Summary: Large-scale genome-wide association studies have shown that the fatty acid desaturase (FADS) locus is implicated in bipolar disorder. To investigate this further, mutant mice lacking Fads1/2 genes were generated. These mice exhibited bipolar swings in activity, accompanied by abnormal circadian rhythms and altered lipid composition in the brain. Supplementation with certain fatty acids prevented the episodic behavioral changes. This study provides a GWAS-based model to understand the involvement of lipids and their metabolisms in the pathogenesis and treatment of bipolar disorder.
MOLECULAR PSYCHIATRY
(2023)
Review
Biochemistry & Molecular Biology
Takumi Nakamura, Atsushi Takata
Summary: Despite ongoing efforts to understand the molecular pathology of schizophrenia, it remains elusive. However, in the past two decades, significant progress has been made in understanding the genetic pathology, with over 20% of the liability to schizophrenia explained by common genetic variants. Rare mutations in specific genes have also been identified to substantially increase the risk for schizophrenia. These findings, along with studies on brain models and patient tissues, have provided new insights into the molecular pathology of schizophrenia.
MOLECULAR PSYCHIATRY
(2023)
Article
Genetics & Heredity
Takeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, Shinichi Kameyama, Hiromi Fukuda, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Hiroaki Adachi, Naomichi Matsumoto
Summary: Benign adult familial myoclonic epilepsy type 1 (BAFME1) is an adult-onset neurological disease caused by SAMD12 repeat expansion. Anticipation, characterized by earlier onset of tremor and/or seizures in the next generation, was observed in BAFME1. Through Nanopore long-read sequencing, detailed information about the expanded SAMD12 repeats across generations was obtained. Surprisingly, a grandmother-mother-daughter trio showed similar repeat structures with slight expansions, despite a wide range of onset ages, indicating a complex relationship between SAMD12 repeat expansion sequence and anticipation. This study suggests that factors other than repeat expansion may modify anticipation in BAFME1.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Rheumatology
Ayaka Maeda, Naomi Tsuchida, Yuri Uchiyama, Nobuyuki Horita, Satoshi Kobayashi, Mitsumasa Kishimoto, Daisuke Kobayashi, Haruki Matsumoto, Tomoyuki Asano, Kiyoshi Migita, Ayaka Kato, Ichiro Mori, Hiroyuki Morita, Akihiro Matsubara, Yoshiaki Marumo, Ito Yuji, Tomoaki Machiyama, Tsuyoshi Shirai, Tomonori Ishii, Mari Kishibe, Yusuke Yoshida, Shintaro Hirata, Satoshi Akao, Akitsu Higuchi, Ryo Rokutanda, Ken Nagahata, Hiroki Takahashi, Kosuke Katsuo, Toshio Ohtani, Hiroshi Fujiwara, Hiromichi Nagano, Takashi Hosokawa, Takanori Ito, Yoichiro Haji, Hiroyuki Yamaguchi, Noboru Hagino, Toshimasa Shimizu, Tomohiro Koga, Atsushi Kawakami, Goichi Kageyama, Hiroshi Kobayashi, Akiko Aoki, Akinari Mizokami, Yoichi Takeuchi, Rena Motohashi, Hiroyuki Hagiyama, Masaki Itagane, Hiroyuki Teruya, Tomohiro Kato, Yuji Miyoshi, Takayasu Kise, Naoto Yokogawa, Takako Ishida, Naoki Umeda, Shuntaro Isogai, Taio Naniwa, Toru Yamabe, Kaori Uchino, Jo Kanasugi, Akiyoshi Takami, Yasushi Kondo, Kazunori Furuhashi, Koichi Saito, Shigeru Ohno, Daiga Kishimoto, Mari Yamamoto, Yoshiro Fujita, Yuichiro Fujieda, Sachiko Araki, Hiroshi Tsushima, Kyohei Misawa, Akira Katagiri, Takahiro Kobayashi, Kenichi Hashimoto, Takehiro Sone, Yukiko Hidaka, Hiroaki Ida, Ryuta Nishikomori, Hiroshi Doi, Katsumichi Fujimaki, Keiichi Akasaka, Masako Amano, Hidekazu Matsushima, Kaori Kashino, Hidenori Ohnishi, Yuki Miwa, Noriyuki Takahashi, Kaoru Takase-Minegishi, Ryusuke Yoshimi, Yohei Kirino, Hideaki Nakajima, Naomichi Matsumoto
Summary: The study aims to detect UBA1 variants and establish a clinical scoring system for predicting patients with VEXAS syndrome. Using PCR and sequencing techniques, UBA1 variants were successfully detected, and the clinical scoring system efficiently predicted the presence of variants in patients.
Article
Genetics & Heredity
Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto, Satoshi Sunada, Toshiyuki Itai, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Yasuhito Kato, Kuniaki Saito, Kazuhiro Ogata, Naomichi Matsumoto
Summary: SLC5A6 gene mutations can cause sodium-dependent multivitamin transporter deficiency and biotin-responsive peripheral motor neuropathy. This study reported three patients from a Japanese family with novel SLC5A6 gene mutations. These patients had congenital brain cysts and mild motor developmental delay, with phenotypic severity intermediate between the two diseases.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Masamune Sakamoto, Kenji Kurosawa, Koji Tanoue, Kazuhiro Iwama, Fumihiko Ishida, Yoshihiro Watanabe, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
Summary: In this study, a de novo germline deletion variant within the USP8 gene was identified in a patient with severe developmental delay, dysmorphic features, and multiorgan dysfunction. This variant may lead to perturbation of the endosomal sorting system and mitochondrial autophagy in the patient.
JOURNAL OF HUMAN GENETICS
(2023)