Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis

Takahashi, Yōichirō; Sano, Rie; Nakajima, Tamiko; Kominato, Yoshihiko; Takahashi, Keiko; Ohshima, Noriyasu; Hirano, Tohko; Kobayashi, Susumu; Shimada, Takahiro; Tokue, Hiroyuki; Awata, Sachiko; Hirasawa, Satoshi; Ishige, Takashi

doi:10.1016/j.forsciint.2014.08.031

Cited by 13 publications

(5 citation statements)

References 15 publications

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“…A total of 20 original research studies [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30] and seven case reports [31][32][33][34][35][36][37] thus met the inclusion criteria for the review, which included at least one infant greater than 1-year-old in their study (►Table 1). One of the seven case reports, however, 34 was also represented in one original research article.…”

Section: Resultsmentioning

confidence: 99%

A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases

2018

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Sudden unexpected death is an upsetting event, which can remain unexplained even after post-mortem investigation. Internationally, molecular autopsies have shown to resolve up to 44% of unexplained cases; however, it is currently unclear how many of these were infants. This systematic literature review showed that significantly fewer infant cases were resolved (median: 4%) compared with cohorts of 1 to 45 years old (median: 32%). Further, no study involving indigenous African participants has yet been published. Overall, molecular autopsies hold immense value to living family members and is motivation to explore new avenues in infant cohorts.

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Section: Resultsmentioning

confidence: 99%

A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases

2018

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“…This revealed a significant accumulation of C14:1 acylcarnitine in the liver, proposing a very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Genetic analysis showed two novel mutations in ACADVL gene (150).…”

Section: Discussionmentioning

confidence: 99%

Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome

Mehboob

Kurdi

Ahmad³

et al. 2021

Front. Pediatr.

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Background: Sudden infant death syndrome (SIDS) is a tragic incident which remains a mystery even after post-mortem investigation and thorough researches.Methods: This comprehensive review is based on the genes reported in the molecular autopsy studies conducted on SIDS so far. A total of 20 original studies and 7 case reports were identified and included in this analysis. The genes identified in children or adults were not included. Most of the genes reported in these studies belonged to cardiac channel and cardiomyopathy. Cardiac channel genes in SIDS were scrutinized for further analysis.Results: After screening and removing the duplicates, 42 unique genes were extracted. When the location of these genes was assessed, it was observed that most of these belonged to Chromosomes 11, 1 and 3 in sequential manner. The pathway analysis shows that these genes are involved in the regulation of heart rate, action potential, cardiac muscle cell contraction and heart contraction. The protein-protein interaction network was also very big and highly interactive. SCN5A, CAV3, ALG10B, AKAP9 and many more were mainly found in these cases and were regulated by many transcription factors such as MYOG C2C1 and CBX3 HCT11. Micro RNA, “hsa-miR-133a-3p” was found to be prevalent in the targeted genes.Conclusions: Molecular and computational approaches are a step forward toward exploration of these sad demises. It is so far a new arena but seems promising to dig out the genetic cause of SIDS in the years to come.

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“…We also performed metabolic autopsy in 30 cases of sudden infant death 33 . Although not a routine procedure, metabolic autopsy is advocated in pediatric guidelines 34 and has been prevalent in Japan, not only in autopsy 33,[35][36][37][38][39][40][41] , but also in the emergency room [42][43][44] .…”

Section: Metabolic Autopsymentioning

confidence: 99%

Molecular autopsy for sudden death in Japan

Yamamoto,

Emoto,

Murase

et al. 2024

J Toxicol Pathol

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Japan has various death investigation systems; however, external examinations, postmortem computed tomography, macroscopic examinations, and microscopic examinations are performed regardless of the system used. These examinations can reveal morphological abnormalities, whereas the cause of death in cases with non-morphological abnormalities can be detected through additional examinations.Molecular autopsy and postmortem genetic analyses are important additional examinations. They are capable of detecting inherited arrhythmias or inherited metabolic diseases, which are representative non-morphological disorders that cause sudden death, especially in infants and young people. In this review, we introduce molecular autopsy reports from Japan and describe our experience with representative cases. The relationships between drug-related deaths and genetic variants are also reviewed. Based on the presented information, molecular autopsy is expected to be used as routine examinations in death investigations because they can provide information to save new lives.

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Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis

Cited by 13 publications

References 15 publications

A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases

A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases

Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome

Molecular autopsy for sudden death in Japan

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