Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution

Murillo-Melo, Nadia Mireya; Márquez-Quiróz, Luz; Gómez, Rocío; Orozco, Lorena; Mendoza-Caamal, Elvia; Tapia-Guerrero, Y. S.; Camacho-Mejorado, Rafael; Cortés, Hernán; López‐Reyes, Alberto; Santana, Carla; Noris, Gino; Hernández-Hernández, Óscar; Cisneros, Bulmaro; Magaña, Jonathan J.

doi:10.1016/j.nmd.2017.09.004

Cited by 5 publications

(4 citation statements)

References 42 publications

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“…However, only 22 patients completed the cognitive testing and, thus, were matched to 22 control volunteers matched by age, gender, and education level. The DM1 patients were identified through molecular diagnosis by Polymerase Chain Reaction (PCR) and CTG triplet repeat‐PCR (TP‐PCR) analyzed by capillary electrophoresis and small‐pool‐PCR tests at Instituto Nacional de Rehabilitación (INR) Luis Guillermo Ibarra Ibarra as previously reported 12 . Table 1 refers to the demographic and clinical characteristics of DM1 patients.…”

Section: Methodsmentioning

confidence: 99%

“…MIRS scale is an ordinal five‐point rating scale, established in accordance with the clinically recognized distal to proximal progression of the muscular involvement in DM1, based partly on a manual muscle testing (MMT) of 11 muscle groups 14 . All DM1 patients showed myotonic discharges according to muscle needle examination (Nicolet Viasys Voking Select, Madison, Wisconsin) 12 …”

Section: Methodsmentioning

confidence: 99%

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Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I

Lopez-Titla

Chirino

Solis

et al. 2020

Journal of Neuroimaging

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BACKGROUND AND PURPOSE Myotonic Dystrophy Type I (DM1) is a neurodegenerative, genetic, and multisystemic disorder with a large variety of symptoms due to a CTG trinucleotide expansion located on Dystrophia Myotonica Protein Kinase (DMPK) gene. Previous reports have shown cognitive deterioration in these patients. Given that white matter (WM) degradation has also been reported in DM1 patients, here we explored if alterations in the cognitive profile of DM1 patients could be related to the deterioration of WM. METHODS A total of 22 classic DM1 patients with age range (18‐56 years) and 22 matched healthy control subjects were neuropsychological evaluated by the Cambridge Neuropsychological Test Automated (CANTAB). Patients were evaluated with the Muscular Impairment Rating Scale (MIRS). We then evaluated the cerebral WM integrity using the Fractional Anisotropy (FA) index obtained from the Diffusion Tensor Imaging (DTI) data acquired with a 3T MR scanner. RESULTS DM1 patients showed generalized reduction of WM integrity across the brain. Similarly, patients’ neuropsychological evaluation showed significant deficits in memory and problem‐solving tasks. Correlation analyses showed a significant correlation between FA deterioration at frontal, temporomedial, and parietal lobes and delayed matched to sample deficits. CONCLUSIONS Our results suggest that despite the pervasive WM integrity loss in DM1 disorder, specific memory impairments can be associated to discreet areas of WM deterioration in these patients.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I

Lopez-Titla

Chirino

Solis

et al. 2020

Journal of Neuroimaging

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“…LGMD and DMD/BMD were included in the present study. Other types of MD such as myotonic, con- genital, facioscapulohumeral and oculopharyngeal muscular dystrophy cases were referred to research groups in and outside Mexico [14,19].…”

Section: Due To the Clinical Similarities Among Mds Onlymentioning

confidence: 99%

Genetic analysis of muscular dystrophies: our experience in Mexico

Escobar-Cedillo¹,

López-Hernández²,

Miranda‐Duarte³

et al. 2021

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Muscular dystrophies are a group of well-defined genetic disorders characterized by the variable distribution of muscle wasting and progressive weakness. The diagnosis and treatment of these diseases remain challenging due to genetic heterogeneity and clinical overlapping. Herein, we describe our 10 years' experience with the diagnosis and management of muscular dystrophy patients. In total, 169 patients were screened for pathogenic variants in eleven genes linked to frequent muscular dystrophies using MLPA and NGS sequencing panels. Most frequent muscular dystrophies found in the Mexican population were dystrophinopathies, dysferlinopathies and calpainopathies. Novel variants were found in genes: DMD, CAPN3, DYSF, and FKRP. For Duchenne muscular dystrophy, improvements in early diagnosis and prolonged ambulation were achieved, on the contrary, for limb-girdle muscular dystrophies and congenital muscular dystrophies, uncomplimentary follow-up and lack of detection strategies were observed. For most common muscular dystrophies, improvements in diagnosis and management have been achieved in the last 10 years, due to a collaborative effort done nationwide.

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“…Additionally, longer repeats were associated with more severe symptoms, an earlier age at onset and the change in expansion size. As the knowledge concerning allelic variation causing several diseases is not yet fully known, it remains necessary to detect all STR changes in order to avoid hidden PM in multiple lineages [32]. For applications as human genetics, genetic genealogy and forensic sciences, it is therefore important to identify all possible allelic variations, and to fully understand the molecular mechanisms of repeat instability.…”

Section: Origin Of Pmmentioning

confidence: 99%

A game of hide and seq: Identification of parallel Y-STR evolution in deep-rooting pedigrees

et al. 2018

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Short tandem repeats on the Y-chromosome (Y-STRs) are common DNA polymorphisms useful for genetic genealogy, population and evolutionary genetics, human genetics, pathology and forensic sciences. It is important to identify all Y-STR variants and to have knowledge of Y-STR mutation rates in order to correctly estimate the time to the most recent common ancestor (tMRCA) between paternally related individuals. When capillary electrophoresis (CE) is performed to analyze genealogical pairs, Y-STR sequence variations remain hidden when the number of repeats is identical. These hidden variations could be due to parallel Y-STR changes or modifications (PM) that occur independently in different lineages leading to alleles with identical number of repeats. In this study, we detect for the first time twelve PM by analyzing 133 males (960 meiosis) in extended deep-rooting family pedigrees on 42 Y-STRs. These PM were observed in nine Y-STR loci with mutation rates of at least 5.94 × 10 −3 per generation. Sequencing analysis made it possible to distinguish insertions/ deletions in different repeat regions revealing the presence of two unique changes in three PM on rapidly mutating and complex Y-STRs DYS724-ab and DYS518. Sequencing unraveled more information concerning the identity of alleles, and increased allelic discrimination possibilities which is of great importance in population genetics and forensic analysis. Limiting the analysis to CE could lead to wrong ancestral allele assumptions, to false negative interpretations and to tMRCA underestimations. These observations highlight the importance and added value of sequencing analysis and suggest a shift in genotyping methods from CE to next generation sequencing.

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Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution

Cited by 5 publications

References 42 publications

Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I

Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I

Genetic analysis of muscular dystrophies: our experience in Mexico

A game of hide and seq: Identification of parallel Y-STR evolution in deep-rooting pedigrees

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