Pitfalls in the diagnosis of mtDNA mutations.

Seneca, Sara; Lissens, Willy; Liebaers, Ingeborg; Bergh, P. van den; Nassogne, Marie‐Cécile; Benatar, A; Meırleır, Linda De

doi:10.1136/jmg.35.11.963

Cited by 15 publications

(14 citation statements)

References 8 publications

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“…The T15943C transition in the threonine tRNA gene was located in the T arm loop region, where several neighboring polymorphisms have been previously identified. Moreover, an adjacent variant, T15940del, was identified in a family with mitochondrial myopathy (Seneca et al, 1998;Tuppen et al, 2008). We hypothesize that A7542G and T1594C are potentially detrimental variants.…”

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confidence: 99%

Role of mitochondrial DNA variants and copy number in diabetic atherogenesis

Chien¹,

Huang²,

Wang³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. Hyperglycemia-induced reactive oxygen species production can cause diabetes and its complications, including atherosclerosis. The role of mitochondrial DNA variants and mitochondrial copy number in the pathogenesis of diabetic atherogenesis is not well understood. We examined 36 diabetic patients who had undergone amputation for diabetic foot and seven non-diabetic patients who had undergone amputation after traumatic injury. Mitochondrial DNA was extracted and used for sequencing. Single nucleotide polymorphisms (SNPs) relative to the Cambridge reference sequence were analyzed. Mitochondrial DNA copy number was quantified by real-time PCR. Twenty-one novel variants were detected in 29 diabetic patients with arterial stenosis; six of the variants were heteroplasmic, and most occurred in highly evolutionarily conserved residues. These variants were more prevalent in patients with arterial stenosis than in those without stenosis. The novel ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 11 (3): 3339-3348 (2012) M.C. Chien et al. 3340

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confidence: 99%

Role of mitochondrial DNA variants and copy number in diabetic atherogenesis

Chien¹,

Huang²,

Wang³

et al. 2012

Genet. Mol. Res.

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“…Mitochondria play an imperative role in glucose metabolism, insulin secretion and biogenesis, hence its dysfunction is reportedly found to play a crucial role in diabetes development (Gerbitz et al 1996;Choo Kang et al 2002). Earlier reports showed the association of mitochondrial DNA mutations like 1310C [T, 1382A[C, 1438G[A, 1201A[G, 3243A[G, 3252A[G, 3256A[T, 3264A[C, 3271A[C, 3290T[C, 3303C[T, 3316G[A, 3394T[C, 8296A[G, 8344A[G, 11778G[A, 12026A[G, 12258C[A, 14577T[C, 14709T[C and 16189T[C (Giles et al 1980Alcolado et al 1994;Kalinin et al 1995;Seneca et al 1998;Chinnery et al 2000;Hattori et al 2003;Pranoto 2005;Brandon et al 2005;Liu et al 2007;Mezghani et al 2010;Vijaya Padma et al 2010;Duraisamy et al 2010;Weng et al, 2013) with T2D development. Particularly, mutation in tRNA Leu gene at 3243 (A[G) position and in the subunits of NADH dehydrogenase 1 and 4 have been reported to have strong association with diabetes incidence in different populations (Kalinin et al 1995;Zhao and Zhang 2001;Lam et al 2001;Pranoto 2005;Yu et al 2004;Duraisamy et al 2010;Vijaya Padma et al 2010).…”

Section: Discussionmentioning

confidence: 99%

“…But to our surprise, none of them were informed with the disease condition and found the maternal family history being the crucial factor in diabetes development (Devi et al 2013(Devi et al , 2015. Therefore, we intend to conduct a detailed study to identify whether mitochondrial mutation particularly ND1 gene has any role to play with diabetes incidence as its association with diabetes development particularly maternal inheritance is well established (Kalinin et al 1995;Hirai et al Nakano et al 1998;Seneca et al 1998;Shin et al 1998;Lam et al 2001;Zhao and Zhang 2001;Hattori et al 2003;Yu et al 2004;Pranoto 2005). …”

Section: Introductionmentioning

confidence: 93%

Mitochondrial ND1 gene mutation analysis in type II diabetes of Karaikudi population

Devi

Elango²,

Ramanan

et al. 2015

Genes Genom

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Mitochondrial single nucleotide polymorphisms (SNPs) are significantly correlated with the development of diabetes mellitus. However, these polymorphisms are emerging to be considerably diverse among different population and regions. Sivaganga district is recently being given importance for genetic studies due to its rigid family structure. Hence, the present study is planned to investigate the correlation between mitochondrial SNP of ND1 gene with type II diabetes (T2D) of Karaikudi population of Sivaganga district. For this study, 206 samples including 105 T2D and 101 healthy volunteers were collected and screened for ND1 gene mutation. Genotyping for the ND1 gene was characterized by polymerase chain reaction, Restriction fragment length polymorphism (RFLP) followed by sequencing. In addition, clinical and biochemical variables were analyzed. RFLP and sequencing results showed G[A transition at 3316 position of ND1 gene in both T2D (6.67 %) and in control subjects (1.9 %). Since the frequency of the mutation was found high in T2D patients, we screened for the mutation in their family members and identified its maternal mode of inheritance. The result warrants for the detailed study to identify population based mitochondrial mutation association with disease development.

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“…The mutation at location 15 928 is a polymorphism of the encoding region of mitochondrial DNA. 11 Mutation 4216 is a secondary mutation of Leber hereditary optic neuropathy, which increases the risk of disease expression. 12 This mutation is also frequently found in patients with stroke and migraine with aura.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Disease and Stroke

Martínez-Fernández

Gil-Peralta²,

R³

et al. 2001

Stroke

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Background and Purpose-It is well known that some mitochondrial disorders are responsible for ischemic cerebral infarction in young patients. Our purpose was to determine, in this prospective ongoing study, whether ischemic stroke is the only manifestation of a mitochondrial disorder in young patients. Methods-Patients aged Յ50 years, admitted to the Stroke Unit from January 1999 to May 2000 with a diagnosis of ischemic stroke of unknown origin, were included in the study. All of them had full biochemical and hematologic tests, neuroimaging studies, transesophageal echocardiography, and extracranial and transcranial Doppler sonography. Patent foramen ovale was ruled out. Lactic acid concentrations were measured after anaerobic exercise of the forearm, and a morphological, biochemical, and molecular study after biceps muscle biopsy was performed. Results-Of the 18 patients so far included, 3 (17%) presented lactic acid hyperproduction after physical exercise, and 6 (33%) showed deficit of the mitochondrial respiratory chain complexes.

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Pitfalls in the diagnosis of mtDNA mutations.

Abstract: In conclusion, the usefulness of current PCR based methods of detecting the junction fragment in CMT1A duplications is limited in our experience.We are grateful to Dr C Van Broeckhoven for providing probe pVAW409R3a. COMBARROSA OTERINO

Cited by 15 publications

References 8 publications

Role of mitochondrial DNA variants and copy number in diabetic atherogenesis

Role of mitochondrial DNA variants and copy number in diabetic atherogenesis

Mitochondrial ND1 gene mutation analysis in type II diabetes of Karaikudi population

Mitochondrial Disease and Stroke

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