Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T&gt;G mutation

Tabebi, Mouna; Charfi, Nadia; Kallabi, Fakhri; Alila-Fersi, Olfa; Mahmoud, Afif Ben; Tlili, Abdelaziz; Keskes, Leila; Kamoun, Hassen; Abid, M.; Mnif, Mouna; Fakhfakh, Faiza

doi:10.1016/j.jdiacomp.2016.06.028

Cited by 17 publications

(6 citation statements)

References 22 publications

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“…Mitochondrial diabetes (MD) is a group of genetically determined diseases inherited through the maternal line, that are manifested by a combination of hyperglycemia and associated neurological diseases, such as hearing loss, myopathy, and neurologic disorders (Karaa and Goldstein, 2015). The role of mitochondria and mtDNA mutations as causative agents of diabetes has been extensively studied (Crispim et al, 2008;Tabebi et al, 2016). It was shown that MD can be caused by point mutations, deletions and duplications in mtDNA that affect functioning of certain genes (Brandon et al, 2005;Crispim et al, 2008;Tabebi et al, 2016).…”

Section: The Role Of Mtdna Mutations In Diabetesmentioning

confidence: 99%

“…The role of mitochondria and mtDNA mutations as causative agents of diabetes has been extensively studied (Crispim et al, 2008;Tabebi et al, 2016). It was shown that MD can be caused by point mutations, deletions and duplications in mtDNA that affect functioning of certain genes (Brandon et al, 2005;Crispim et al, 2008;Tabebi et al, 2016). Although nuclear DNA mutations also play an important role in the pathology development, they appear with a 10-1,000 times lower frequency than mutations in mtDNA (Guillausseau et al, 2001;Katulanda et al, 2008).…”

Section: The Role Of Mtdna Mutations In Diabetesmentioning

confidence: 99%

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The Role of Mitochondrial Dysfunction in Vascular Disease, Tumorigenesis, and Diabetes

Жунина

Yabbarov

Grechko

et al. 2021

Front. Mol. Biosci.

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Mitochondrial dysfunction is known to be associated with a wide range of human pathologies, such as cancer, metabolic, and cardiovascular diseases. One of the possible ways of mitochondrial involvement in the cellular damage is excessive production of reactive oxygen and nitrogen species (ROS and RNS) that cannot be effectively neutralized by existing antioxidant systems. In mitochondria, ROS and RNS can contribute to protein and mitochondrial DNA (mtDNA) damage causing failure of enzymatic chains and mutations that can impair mitochondrial function. These processes further lead to abnormal cell signaling, premature cell senescence, initiation of inflammation, and apoptosis. Recent studies have identified numerous mtDNA mutations associated with different human pathologies. Some of them result in imbalanced oxidative phosphorylation, while others affect mitochondrial protein synthesis. In this review, we discuss the role of mtDNA mutations in cancer, diabetes, cardiovascular diseases, and atherosclerosis. We provide a list of currently described mtDNA mutations associated with each pathology and discuss the possible future perspective of the research.

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Section: The Role Of Mtdna Mutations In Diabetesmentioning

confidence: 99%

Section: The Role Of Mtdna Mutations In Diabetesmentioning

confidence: 99%

The Role of Mitochondrial Dysfunction in Vascular Disease, Tumorigenesis, and Diabetes

Жунина

Yabbarov

Grechko

et al. 2021

Front. Mol. Biosci.

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“…Another study has shown diabetics with the A3243G mutation had more impairment in autonomic nervous function when compared to other diabetics [78]. The mitochondrial mutation A3243G causes a majority of the cases of MIDD, however other mutations have been identified in rare cases, including point mutations at 568 and 8281 (Table 2) [63,64,79].…”

Section: Primary Mitochondrial Disordersmentioning

confidence: 99%

Cardiovascular Manifestations of Mitochondrial Disease

Duran

Martínez

Adler

2019

Biology

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Genetic mitochondrial cardiomyopathies are uncommon causes of heart failure that may not be seen by most physicians. However, the prevalence of mitochondrial DNA mutations and somatic mutations affecting mitochondrial function are more common than previously thought. In this review, the pathogenesis of genetic mitochondrial disorders causing cardiovascular disease is reviewed. Treatment options are presently limited to mostly symptomatic support, but preclinical research is starting to reveal novel approaches that may lead to better and more targeted therapies in the future. With better understanding and clinician education, we hope to improve clinician recognition and diagnosis of these rare disorders in order to improve ongoing care of patients with these diseases and advance research towards discovering new therapeutic strategies to help treat these diseases.

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“…Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder causing a syndromic form of diabetes accompanied by sensorineural hearing loss and some cases include renal problems, pigmentary retinopathy, ptosis, myopathy, cardiomyopathy and/or neuro-psychiatric symptoms (OMIM: 520000) [27,28]. Mutations in MT-TL1, MT-TK or MT-TE mitochondrial genes coding for mtRNAs, which participate in the protein production in mitochondria and impair their functioning had been linked in MIDD [29].…”

Section: Mitochondrial-linked Shlmentioning

confidence: 99%

Genetics and Acquired Hearing Loss

Alkowari¹,

Guarch²

2019

Geriatric Medicine and Gerontology

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Hearing loss (HL) is a worldwide disease with substantial economic costs for the public health. Around 466 million people have disabling hearing loss and the WHO estimated that by 2050 over 900 million people will suffer hearing loss. Several factors including infections, noise-exposure, ototoxic medications or genetic disorders could cause hearing impairment. Hearing devices such as cochlear implants and aids are the current therapies. Although the prevalence of hearing loss is very high, alternative treatments as pharmaceutical agents are currently insufficient. Within the past years, increased knowledge on hearing loss etiology and physiopathology opened new opportunities for future research towards hearing loss treatment. Here we aim to review current bibliography on genetics factors involved in hearing loss.

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Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation

Cited by 17 publications

References 22 publications

The Role of Mitochondrial Dysfunction in Vascular Disease, Tumorigenesis, and Diabetes

The Role of Mitochondrial Dysfunction in Vascular Disease, Tumorigenesis, and Diabetes

Cardiovascular Manifestations of Mitochondrial Disease

Genetics and Acquired Hearing Loss

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