Heteroplasmia de la mutación del ADN mitocondrial m.3243A&gt;G en la diabetes y sordera de herencia materna

Cataldo, Luis Rodrigo; Olmos, Pablo; Smalley, Susan V.; Dı́ez, A.; Parada, Alejandra; Gejman, Roger; Fadić, Ricardo; Santos, José Luis

doi:10.4067/s0034-98872013000300004

Cited by 3 publications

(2 citation statements)

References 32 publications

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“…However, all our samples were amplified following the same protocol. Heteroplasmy in humans is linked to maternal inherited diseases, however its effects in insects are unknown (Cataldo et al 2013).…”

Section: Discussionmentioning

confidence: 99%

Genetic variation ofAedes aegyptipopulations from Ecuador

Cevallos¹,

Benítez²,

Coloma³

et al. 2019

Preprint

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33This is the first genetic analysis in Ecuador of Aedes aegypti using fragments of mitochondrial 34 genes, NADH dehydrogenase subunit 4 (ND4) and cytochrome oxidase subunit I (COI). A total 35 of 154 mosquitoes from 23 localities were collected in the Pacific coastal lowlands, Amazon 36 basin lowlands, and the Galápagos Islands from 2012 to 2019. The analysis of fragments of the 37 genes COI (672 bp) and ND4 (262 bp) and concatenated analysis of both COI and ND4 showed 38 two haplotypes (H1, H2) present in Ecuador mainland and the Galápagos Islands. The 39 phylogenetic analysis identified two well-supported clades. Combined analysis of both genes 40 from ten localities also resulted in two haplotypes. Nucleotide diversity, neutrality tests 41 (Tajima´s test D, Fu and Li´s F*and D*) and AMOVA analysis of the entire data set suggest 42 balancing selection for both genes. The results indicate genetic variation without geographical 43 restriction. COI-H1 grouped with sequences from the Americas, West and Central Africa, East 44 Africa, Asia, and Australia. ND4-H1 grouped with similar sequences from the Americas, Asia 45 and West Africa. COI-H2 grouped with sequences from Asia and the Americas. ND4-H2 46 grouped with sequences from the Americas. We report overlapping peaks in four sequences that 47 suggest heteroplasmy in the individuals. The origin of the populations of Aedes aegypti in 48Ecuador show African genetic origin and are widely present in several countries in the Americas. 49

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Section: Discussionmentioning

confidence: 99%

Genetic variation ofAedes aegyptipopulations from Ecuador

Cevallos¹,

Benítez²,

Coloma³

et al. 2019

Preprint

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“… 24 , 62 , 63 , 65–67 Alterations in certain regions of mtDNA associated with deafness are also associated with a host of other disorders, such as myopathy including cardiomyopathy, diabetes, and parkinsonism. 68–72 …”

Section: Mitochondrial Dysfunction In Hearing Lossmentioning

confidence: 99%

A New Approach to Treating Neurodegenerative Otologic Disorders

Moos

Faller

Glavas

et al. 2018

BioResearch Open Access

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Hearing loss, the most common neurological disorder and the fourth leading cause of years lived with disability, can have profound effects on quality of life. The impact of this “invisible disability,” with significant consequences, economic and personal, is most substantial in low- and middle-income countries, where >80% of affected people live. Given the importance of hearing for communication, enjoyment, and safety, with up to 500 million affected globally at a cost of nearly $800 billion/year, research on new approaches toward prevention and treatment is attracting increased attention. The consequences of noise pollution are largely preventable, but irreversible hearing loss can result from aging, disease, or drug side effects. Once damage occurs, treatment relies on hearing aids and cochlear implants. Preventing, delaying, or reducing some degree of hearing loss may be possible by avoiding excessive noise and addressing major contributory factors such as cardiovascular risk. However, given the magnitude of the problem, these interventions alone are unlikely to be sufficient. Recent advances in understanding principal mechanisms that govern hearing function, together with new drug discovery paradigms designed to identify efficacious therapies, bode well for pharmaceutical intervention. This review surveys various causes of loss of auditory function and discusses potential neurological underpinnings, including mitochondrial dysfunction. Mitochondria mitigate cell protection, survival, and function and may succumb to cumulative degradation of energy production and performance; the end result is cell death. Energy-demanding neurons and vestibulocochlear hair cells are vulnerable to mitochondrial dysfunction, and hearing impairment and deafness are characteristic of neurodegenerative mitochondrial disease phenotypes. Beyond acting as cellular powerhouses, mitochondria regulate immune responses to infections, and studies of this phenomenon have aided in identifying nuclear factor kappa B and nuclear factor erythroid 2-related factor 2/antioxidant response element signaling as targets for discovery of otologic drugs, respectively, suppressing or upregulating these pathways. Treatment with free radical scavenging antioxidants is one therapeutic approach, with lipoic acid and corresponding carnitine esters exhibiting improved biodistribution and other features showing promise. These compounds are also histone deacetylase (HDAC) inhibitors, adding epigenetic modulation to the mechanistic milieu through which they act. These data suggest that new drugs targeting mitochondrial dysfunction and modulating epigenetic pathways via HDAC inhibition or other mechanisms hold great promise.

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