Article
Genetics & Heredity
YanYan Ma, YaoGang Zhang, Tao Zhang, Zhu Man, XiaoMing Su, ShuJing Hao, TianZe Wang
Summary: This study identified a practical enzymatic diagnostic method for PDHC-related mitochondrial diseases through peripheral blood leukocyte PDHC activity assay and gene mutation analysis. The results showed a dramatically decreased PDHC activity and the identification of a missense mutation in the PDHC gene, providing insights for clinical diagnosis of PDHC deficiency.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Medicine, Research & Experimental
Chynna N. Broxton, Prabhjot Kaur, Manuela Lavorato, Smruthi Ganesh, Rui Xiao, Neal D. Mathew, Eiko Nakamaru-Ogiso, Vernon E. Anderson, Marni J. Falk
Summary: Dihydrolipoamide dehydrogenase (DLD) deficiency is a genetic disorder caused by mitochondrial depletion. By studying the nematode Caenorhabditis elegans, researchers found that DLD-1 deficiency leads to increased mitochondrial stress and impaired growth and neuromuscular function. The potential therapeutic effects of dichloroacetate and thiamine were demonstrated in this study.
Article
Medicine, Research & Experimental
Rohit Sharma, Bryn Reinstadler, Kristin Engelstad, Owen S. Skinner, Erin Stackowitz, Ronald G. Haller, Clary B. Clish, Kerry Pierce, Melissa A. Walker, Robert Fryer, Devin Oglesbee, Xiangling Mao, Dikoma C. Shungu, Ashok Khatri, Michio Hirano, Darryl C. De Vivo, Vamsi K. Mootha
Summary: This study identified 20 circulating markers that can distinguish patients with MELAS from controls, including both classic and recently identified mitochondrial markers. These markers correlate strongly with disease severity and are largely attributable to an elevated NADH/NAD(+) ratio.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Review
Biochemistry & Molecular Biology
Vanessa Zanette, Daniel do Valle, Bruno Augusto Telles, Alan J. Robinson, Vaneisse Monteiro, Mara Lucia S. F. Santos, Ricardo Lehtonen R. Souza, Cristiane Beninca
Summary: Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder, with a wide range of phenotypes and poor correlation within genotypes. This study in the Brazilian population expands the understanding of CI deficiency by reporting patients with pathogenic and likely pathogenic variants in the NDUFV1 gene, highlighting the phenotypic heterogeneity in CI deficiency. The mutation c.766C>T is associated with childhood onset symptoms and later complications in adulthood, such as headaches and exercise intolerance.
GENETICS AND MOLECULAR BIOLOGY
(2021)
Article
Pediatrics
Jian-Min Liang, Cui-Juan Xin, Guang-Liang Wang, Xue-Mei Wu
Summary: Multiple causative mutations in mitochondrial and nuclear DNA have been identified in Leigh syndrome patients, including a novel mutation m.13513 G>A reported for the first time in a Chinese patient. A case of a Chinese boy diagnosed with Leigh syndrome and WPW syndrome was described, highlighting the geographical and racial variability of the disease.
FRONTIERS IN PEDIATRICS
(2021)
Article
Medicine, Research & Experimental
Nathaniel K. Mullin, Andrew P. Voigt, Miles J. Flamme-Wiese, Xiuying Liu, Megan J. Riker, Katayoun Varzavand, Edwin M. Stone, Budd A. Tucker, Robert F. Mullins
Summary: Variants in the high copy number mitochondrial genome can disrupt organelle function and lead to severe multisystem disease. Heteroplasmy, the uneven distribution of abnormal mtDNA molecules in different cells and tissues, contributes to the wide range of manifestations observed in patients with mitochondrial disease. This study reveals the nonrandom nature of mitochondrial variant distribution in human mitochondrial disease, highlighting its importance for understanding pathogenesis and developing treatments.
Article
Medicine, General & Internal
Fang-Qiang Zhou
Summary: Ongoing debates exist about resuscitation fluids, and each current fluid has limitations. A novel fluid that overcomes these limitations is necessary for most patients, especially those with diabetes and older patients. Pyruvate, a natural antioxidant and anti-inflammatory agent, has shown potential in protecting organ functions and offers advantages over existing fluids.
FRONTIERS IN MEDICINE
(2022)
Article
Genetics & Heredity
Yuqing Liu, Shuai Zhao, Xiaolei Chen, Yuehong Bian, Yongzhi Cao, Peiwen Xu, Changming Zhang, Jiangtao Zhang, Shigang Zhao, Han Zhao
Summary: This case-control study found an association between mtDNA variations and early embryonic development defects in infertile Chinese women, particularly in the d-loop region, ATP6 gene, and CYTB gene.
Article
Nutrition & Dietetics
Adam M. Deane, Alice Jiang, Brianna Tascone, Annabelle Clancy, Mark E. Finnis, Jake T. Collie, Ronda Greaves, Kathleen M. Byrne, Tomoko Fujii, James S. Douglas, Alistair Nichol, Andrew A. Udy, Meredith Young, Giovanni Russo, Kate Fetterplace, Matthew J. Maiden, Mark P. Plummer, Fumitaka Yanase, Rinaldo Bellomo, Yasmine Ali Abdelhamid
Summary: The study aimed to investigate the effect of intravenous thiamine on blood lactate, biochemical, and clinical outcomes in critically ill enterally-fed patients. The results showed that intravenous thiamine did not cause measurable differences in blood lactate or clinical outcomes in this group of patients.
CLINICAL NUTRITION
(2021)
Article
Cell Biology
Xinpei Gao, Zhixin Jiang, Xinfeng Yan, Jiping Liu, Fengwen Li, Peng Liu, Jialu Li, Yuehua Wei, Yi Eve Sun, Yinan Zhang, Congrong Wang
Summary: The study isolated and expanded urine-derived stem cells from patients with the m.3243A>G mutation, finding that cells with high mutation levels exhibited abnormal mitochondrial morphology and function, as well as affected signaling pathways and osteogenic potentials. Knocking down ATF5 improved mitochondrial function and restored osteogenic potentials, suggesting ATF5-dependent UPRmt could be a potential therapeutic target for mitochondrial dysfunction and osteoporosis associated with the m.3243A>G mutation.
CELL DEATH & DISEASE
(2021)
Article
Urology & Nephrology
N. Mammadova, J. Soukup, P. Shkodivskyi, C. Gudowski, A. Ahmed, R. U. Pliquett
Summary: This case report presents a patient with MALA complicated by acute coronary syndrome. The combination of high-efficiency hemodialysis and continuous venovenous hemodiafiltration had a favorable outcome for the patient's recovery.
Article
Medicine, General & Internal
Jian-Min Liang, Cui-Juan Xin, Guang-Liang Wang, Xue-Mei Wu
Summary: Leigh syndrome, a mitochondrial disease, can present in both early-onset and late-onset forms with significant phenotypic variability. This case describes a 12-year-old boy with an unusual late-onset, fulminant form of maternally inherited LS without developmental delay, who died within 2 months of hospital admission.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Article
Clinical Neurology
Ji-Hoon Na, Young -Mock Lee
Summary: This study investigated the distribution of mutant loads of different mtDNA mutations in patients with Leigh syndrome and found that MT-ATP6 had significantly higher mutant load compared with MT-ND3 and MT-ND5. The mutation loads varied significantly among patients carrying the MT-ATP6, MT-ND3, and MT-ND5 mutations.
PEDIATRIC NEUROLOGY
(2023)
Article
Biology
Rabina Mainali, Manal Zabalawi, David Long, Nancy Buechler, Ellen Quillen, Chia-Chi Key, Xuewei Zhu, John S. Parks, Cristina Furdui, Peter W. Stacpoole, Jennifer Martinez, Charles E. McCall, Matthew A. Quinn
Summary: Metabolic reprogramming occurs in the immune system during sepsis, particularly in the liver, with changes in lipid metabolism, mitochondrial energy, and redox balance. Targeting mitochondrial energy metabolism can rebalance the transcriptional and metabolic manifestations of sepsis in the liver.
Article
Multidisciplinary Sciences
Hyun Kyung Yi, Jang Yoo, Seok Jin Kim, Joon Young Choi, Kyung-Han Lee
Summary: This study aims to investigate the mechanism of lymphoma-associated hyperlactatemia and found a correlation between blood lactate concentration, lymphoma tumor burden, and brain FDG uptake.
SCIENTIFIC REPORTS
(2022)
Article
Clinical Neurology
Shuichi Yatsuga, Yasunori Fujita, Akiko Ishii, Yoshihiro Fukumoto, Hajime Arahata, Tatsuyuki Kakuma, Toshio Kojima, Masafumi Ito, Masashi Tanaka, Reo Saiki, Yasutoshi Koga
ANNALS OF NEUROLOGY
(2015)
Article
Clinical Neurology
Koujyu Katayama, Nataliya Povalko, Shuichi Yatsuga, Junko Nishioka, Tatsuyuki Kakuma, Toyojiro Matsuishi, Yasutoshi Koga
BRAIN & DEVELOPMENT
(2015)
Article
Clinical Neurology
Koujyu Katayama, Yushiro Yamashita, Shuichi Yatsuga, Yasutoshi Koga, Toyojiro Matsuishi
BRAIN & DEVELOPMENT
(2016)
Article
Endocrinology & Metabolism
Takeshi Inoue, Nobuyuki Murakami, Tadayuki Ayabe, Yuji Oto, Ichizo Nishino, Yu-ichi Goto, Yasutoshi Koga, Ryoichi Sakuta
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2016)
Letter
Clinical Neurology
Miyuki Kitamura, Shuichi Yatsuga, Toshi Abe, Nataliya Povalko, Reo Saiki, Kikumi Ushijima, Yushiro Yamashita, Yasutoshi Koga
JOURNAL OF NEUROLOGY
(2016)
Article
Medicine, General & Internal
Takaaki Murakami, Yoko Ueba, Yuya Shinoto, Yasutoshi Koga, Daita Kaneda, Tomonobu Hatoko, Tomoko Kato, Shin Yonemitsu, Seiji Murol, Shogo Okil
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
(2016)
Article
Medicine, General & Internal
Takaaki Murakami, Yuya Shinoto, Shin Yonemitsu, Seiji Muro, Shogo Oki, Yasutoshi Koga, Yu-ichi Goto, Daita Kaneda
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
(2016)
Article
Medicine, General & Internal
Grainne S. Gorman, Patrick F. Chinnery, Salvatore DiMauro, Michio Hirano, Yasutoshi Koga, Robert McFarland, Anu Suomalainen, David R. Thorburn, Massimo Zeviani, Douglass M. Turnbull
NATURE REVIEWS DISEASE PRIMERS
(2016)
Article
Clinical Neurology
Yutaka Ohsawa, Hiroki Hagiwara, Shin-ichiro Nishimatsu, Akihiro Hirakawa, Naomi Kamimura, Hideaki Ohtsubo, Yuta Fukai, Tatsufumi Murakami, Yasutoshi Koga, Yu-ichi Goto, Shigeo Ohta, Yoshihide Sunada, H. Onoue, K. Kaida, K. Sato, T. Uchiyama, A. Ueda, T. Mutoh, M. Nakamura, K. Nishida, I. Funakawa, A. Ogawa, R. Nakata, H. Shiraishi, A. Tsujino, T. Takahashi, M. Matsumoto
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2019)
Article
Clinical Neurology
Yasutoshi Koga, Nataliya Povalko, Eisuke Inoue, Hidefumi Nakamura, Akiko Ishii, Yasuhiro Suzuki, Makoto Yoneda, Fumio Kanda, Masaya Kubota, Hisashi Okada, Katsunori Fujii
JOURNAL OF NEUROLOGY
(2018)
Article
Cell Biology
Yasutoshi Koga, Nataliya Povalko, Eisuke Inoue, Kazutaka Nashiki, Masashi Tanaka
Article
Clinical Neurology
Seitaro Nohara, Akiko Ishii, Fumiko Yamamoto, Kumi Yanagiha, Tetsuya Moriyama, Naoki Tozaka, Zenshi Miyake, Shuichi Yatsuga, Yasutoshi Koga, Takashi Hosaka, Makoto Terada, Tetsuto Yamaguchi, Satoshi Aizawa, Naomi Mamada, Hiroshi Tsuji, Yasushi Tomidokoro, Kiyotaka Nakamagoe, Kazuhiro Ishii, Masahiko Watanabe, Akira Tamaoka
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2019)
Article
Endocrinology & Metabolism
Yasutoshi Koga, Nataliya Povalko, Eisuke Inoue, Akiko Ishii, Katsunori Fujii, Tatsuya Fujii, Kei Murayama, Yukiko Mogami, Ikue Hata, Masamichi Ikawa, Kei Fukami, Yoshihiro Fukumoto, Masatoshi Nomura, Kazuki Ichikawa, Kaori Yoshida
Summary: GDF15 is a useful biomarker for diagnosing and evaluating MDs, and the newly developed LTIA device shows potential in serum concentration measurement.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Genetics & Heredity
Kojima-Ishii Kanako, Nana Sakakibara, Kei Murayama, Koji Nagatani, Satoshi Murata, Akira Otake, Yasutoshi Koga, Hisato Suzuki, Tomoko Uehara, Kenjiro Kosaki, Koh-ichiro Yoshiura, Hiroyuki Mishima, Yuko Ichimiya, Yuichi Mushimoto, Tomoko Horinouchi, China Nagano, Tomohiko Yamamura, Kazumoto Iijima, Kandai Nozu
Summary: Fanconi syndrome is a functional disorder of the proximal tubule characterized by various symptoms such as aminoaciduria, glucosuria, hypophosphatemia, and metabolic acidosis. Recent studies have identified several causative genes for Fanconi syndrome, some of which are related to mitochondrial diseases. Mutations in the BCS1L gene causing deficiency in mitochondrial respiratory chain complex III have been found to be associated with Fanconi syndrome and developmental disability in some cases.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Misa Matsui, Misaki Yamadera, Toshio Saito, Harutoshi Fujimura, Saburo Sakoda, Yasutoshi Koga
NEUROLOGY AND CLINICAL NEUROSCIENCE
(2019)