Possible role of mtDNA mutations in sudden infant death

Opdal, Siri Hauge; Vege, Åshild; Egeland, Thore; Musse, Musse A.; Rognum, Torleiv O.

doi:10.1016/s0887-8994(02)00384-3

Cited by 41 publications

(38 citation statements)

References 35 publications

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“…A mitochondriopathy resulting in decreased ATP production has therefore been hypothesized in SIDS. A higher substitution frequency observed in the D-loop in SIDS cases compared to controls indicates that mtDNA instability may play a role [108,109], and at least 60 different mutations have been observed in coding regions of mtDNA in victims of sudden death [110][111][112][113][114][115][116][117]. However, so far no predominant mtDNA mutation has been found to be associated with SIDS, which makes it difficult to Forensic Sci Med Pathol (2011) 7: 26-36 31 conclude that mtDNA is of great importance with regard to sudden unexpected death.…”

Section: Glucose Metabolismmentioning

confidence: 99%

Gene variants predisposing to SIDS: current knowledge

Opdal

Rognum

2010

Forensic Sci Med Pathol

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Genetic risk factors play a role in sudden unexpected infant death; either as a cause of death, such as in cases with medium-chain acyl-coenzyme A dehydrogenase deficiency and cardiac arrest due to long QT syndrome, or as predisposing factors for sudden infant death syndrome (SIDS). Most likely genetic predisposition to SIDS represent a polygenic inheritance pattern leading to sudden death when combined with other risk factors, such as a vulnerable developmental stage of the central nervous system and/or the immune system, in addition to environmental risk factors, such as a common cold or prone sleeping position. Genes involved in the regulation of the immune system, cardiac function, the serotonergic network and brain function and development have so far emerged as the most important with respect to SIDS. The purpose of the present paper is to survey current knowledge on SIDS and possible genetic contributions.

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Section: Glucose Metabolismmentioning

confidence: 99%

Gene variants predisposing to SIDS: current knowledge

Opdal

Rognum

2010

Forensic Sci Med Pathol

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“…Point mutations in various locations within the mtDNA have also been observed in individual SIDS case reports [Santorelli et al, 1996;Opdal et al, 1999a;reviewed in Opdal and Rognum, 2004], but have not been found consistently nor in larger series of cases [180 Norwegian SIDS cases, Opdal et al, 2002;and 20 Swedish SIDS cases, Divne et al, 2003].…”

Section: Energy Productionmentioning

confidence: 99%

Sudden Infant Death Syndrome: Review of implicated genetic factors

Weese‐Mayer

Ackerman

Marazita

et al. 2007

American J of Med Genetics Pt A

122

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Genetic studies in Sudden Infant Death Syndrome (SIDS) have been motivated by clinical, epidemiological, and/or neuropathological observations in SIDS victims, with subsequent pursuit of candidate genes in five categories: (1) genes for ion channel proteins based on electrocardiographic evidence of prolonged QT intervals in SIDS victims, (2) gene for serotonin transporter based on decreased serotonergic receptor binding in brainstems of SIDS victims, (3) genes pertinent to the early embryology of the autonomic nervous system (ANS) (and with a link to the 5-HT system) based on reports of ANS dysregulation in SIDS victims, (4) genes for nicotine metabolizing enzymes based on evidence of cigarette smoking as a modifiable risk factor for SIDS, and (5) genes regulating inflammation, energy production, hypoglycemia, and thermal regulation based on reports of postnatal infection, low birth weight, and/or overheating in SIDS victims. Evidence for each of these classes of candidate genes is reviewed in detail. As this review indicates, a number of genetically controlled pathways appear to be involved in at least some cases of SIDS. Given the diversity of results to date, genetic studies support the clinical impression that SIDS is heterogeneous with more than one entity and with more than one possible genetic etiology. Future studies should consider expanded phenotypic features that might help clarify the heterogeneity and improve the predictive value of the identified genetic factors. Such features should be evaluated to the extent possible in both SIDS victims and their family members. With 2,162 infants dying from SIDS in 2003 in the U.S. alone, and improved but still imperfect parent and caretaker compliance with known modifiable risk factors for SIDS, it behooves clinicians, researchers, and parents to combine efforts to reach a common goal. The message of the "Back to Sleep" campaign needs to be re-introduced/re-engineered to reach families and caretakers of all ethnic groups. Clinicians and researchers need to gently inform new SIDS parents about the opportunity to contribute tissue to the NICHD-funded University of Maryland Brain and Tissue Bank. By expanding the network of clinicians, scientists, and families working together, and by combined efforts in a collaborative multi-center study of candidate genes and/or genomics, the discovery of the genetic profile of the infant at risk for SIDS can ultimately be determined.

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“…85,104 In addition, complex I mtDNA mutations may cause LHON/MELAS (3376GϾA) 9 or LHON/MELAS/ Leigh (13045AϾC) overlap syndromes. 57 Furthermore, 3308TϾC and 3308TϾG (M1T and M1X, respectively, in the ND1 gene) were reported to play a role in sudden infant death syndrome, 72 and 3644TϾC (V113A, ND1) has been associated with bipolar disorder. 69 The initiation methionine of the MTND1 gene is not conserved throughout evolution.…”

Section: Clinical Phenotypes Associated With Complex I Mitochondrial mentioning

confidence: 99%

Pathogenic mitochondrial DNA mutations in protein‐coding genes

Wong

2007

Muscle and Nerve

108

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More than 200 disease-related mitochondrial DNA (mtDNA) point mutations have been reported in the Mitomap (http://www.mitomap.org) database. These mutations can be divided into two groups: mutations affecting mitochondrial protein synthesis, including mutations in tRNA and rRNA genes; and mutations in protein-encoding genes (mRNAs). This review focuses on mutations in mitochondrial genes that encode proteins. These mutations are involved in a broad spectrum of human diseases, including a variety of multisystem disorders as well as more tissue-specific diseases such as isolated myopathy and Leber hereditary optic neuropathy (LHON). Because the mitochondrial genome contains a large number of apparently neutral polymorphisms that have little pathogenic significance, along with secondary homoplasmic mutations that do not have primary disease-causing effect, the pathogenic role of all newly discovered mutations must be rigorously established. A scoring system has been applied to evaluate the pathogenicity of the mutations in mtDNA protein-encoding genes and to review the predominant clinical features and the molecular characteristics of mutations in each mtDNA-encoded respiratory chain complex.

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Possible role of mtDNA mutations in sudden infant death

Cited by 41 publications

References 35 publications

Gene variants predisposing to SIDS: current knowledge

Gene variants predisposing to SIDS: current knowledge

Sudden Infant Death Syndrome: Review of implicated genetic factors

Pathogenic mitochondrial DNA mutations in protein‐coding genes

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