High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study

Perna, Alessia; Maccora, Daria; Rossi, Salvatore; Nicoletti, Tommaso; Zocco, Maria Assunta; Riso, Vittorio; Modoni, Anna; Petrucci, Antonio; Valenza, Venanzio; Grieco, Antonio; Miele, Luca; Silvestri, Gabriella

doi:10.3389/fneur.2020.00394

Cited by 18 publications

(21 citation statements)

References 39 publications

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“…Clinically, insulin metabolism and HOMA-IR (Insulin resistance index) were significantly higher in patients with DM1 than control group [ 27 , 28 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 ] as demonstrated in Table 2 . Glucose levels were similar in both patients with DM1 and control group [ 27 , 28 , 55 , 56 , 57 , 58 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 ]. Total cholesterol values in patients with DM1 were higher than control group [ 27 , 28 , 55 , 56 , 57 , 58 , 59 , 60 , 62 , 63 , 64 , 65 , 67 ].…”

Section: Metabolic Dysfunction In Dm1mentioning

confidence: 95%

“…Glucose levels were similar in both patients with DM1 and control group [ 27 , 28 , 55 , 56 , 57 , 58 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 ]. Total cholesterol values in patients with DM1 were higher than control group [ 27 , 28 , 55 , 56 , 57 , 58 , 59 , 60 , 62 , 63 , 64 , 65 , 67 ]. LDL was also higher in patients with DM1 when compared with control group [ 27 , 28 , 58 , 59 , 60 , 62 , 63 , 64 , 68 , 69 ].…”

Section: Metabolic Dysfunction In Dm1mentioning

confidence: 95%

“…Whereas HDL was similar in both patients and control group [ 27 , 28 , 58 , 59 , 60 , 62 , 63 , 64 , 65 , 66 , 68 , 69 ]. TAG levels were higher in patients with DM1 than control group [ 27 , 28 , 56 , 57 , 58 , 59 , 60 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 ]. Furthermore, from the 18 studies, 11 [ 27 , 55 , 57 , 59 , 60 , 61 , 62 , 64 , 65 , 68 , 70 ] showed a significant difference ( p ≤ 0.05) between patients with DM1 and controls ( Table S1 ); namely, higher levels of insulin [ 57 , 59 , 61 , 62 ], HOMA-IR [ 27 , 57 , 61 , 65 , 70 ], total cholesterol [ 55 , 57 , 60 , 65 ], LDL [ 60 , 68 ], TAG […”

Section: Metabolic Dysfunction In Dm1mentioning

confidence: 99%

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Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin

Mateus

Martins

Nunes

et al. 2021

IJERPH

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Myotonic dystrophy type 1 (DM1) is an autosomal dominant hereditary and multisystemic disease, characterized by progressive distal muscle weakness and myotonia. Despite huge efforts, the pathophysiological mechanisms underlying DM1 remain elusive. In this review, the metabolic alterations observed in patients with DM1 and their connection with lipin proteins are discussed. We start by briefly describing the epidemiology, the physiopathological and systemic features of DM1. The molecular mechanisms proposed for DM1 are explored and summarized. An overview of metabolic syndrome, dyslipidemia, and the summary of metabolic alterations observed in patients with DM1 are presented. Patients with DM1 present clinical evidence of metabolic alterations, namely increased levels of triacylglycerol and low-density lipoprotein, increased insulin and glucose levels, increased abdominal obesity, and low levels of high-density lipoprotein. These metabolic alterations may be associated with lipins, which are phosphatidate phosphatase enzymes that regulates the triacylglycerol levels, phospholipids, lipid signaling pathways, and are transcriptional co-activators. Furthermore, lipins are also important for autophagy, inflammasome activation and lipoproteins synthesis. We demonstrate the association of lipin with the metabolic alterations in patients with DM1, which supports further clinical studies and a proper exploration of lipin proteins as therapeutic targets for metabolic syndrome, which is important for controlling many diseases including DM1.

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Section: Metabolic Dysfunction In Dm1mentioning

confidence: 95%

Section: Metabolic Dysfunction In Dm1mentioning

confidence: 95%

Section: Metabolic Dysfunction In Dm1mentioning

confidence: 99%

See 1 more Smart Citation

Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin

Mateus

Martins

Nunes

et al. 2021

IJERPH

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“…On the other hand, female patients suffer more often from cataracts, dysphagia, thyroid disorder and gastrointestinal problems [ 16 ]. More recently, a higher prevalence of gastrointestinal symptoms in female patients and a higher risk of cardiac conduction abnormalities in males were also observed in two independent DM1 cohorts with 103 and 61 DM1 patients, respectively [ 17 , 74 ].…”

Section: Sex Ctg Repeats and Epigeneticsmentioning

confidence: 97%

Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1

Pontual

Tomé

2022

IJMS

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Among the trinucleotide repeat disorders, myotonic dystrophy type 1 (DM1) is one of the most complex neuromuscular diseases caused by an unstable CTG repeat expansion in the DMPK gene. DM1 patients exhibit high variability in the dynamics of CTG repeat instability and in the manifestations and progression of the disease. The largest expanded alleles are generally associated with the earliest and most severe clinical form. However, CTG repeat length alone is not sufficient to predict disease severity and progression, suggesting the involvement of other factors. Several data support the role of epigenetic alterations in clinical and genetic variability. By highlighting epigenetic alterations in DM1, this review provides a new avenue on how these changes can serve as biomarkers to predict clinical features and the mutation behavior.

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“…Several studies have attempted to explain this discrimination and the clinical and genetic variable results, whereby the gender of the transmitting parent influences the CTG repeat size of the DMPK in the affected child, causing preferential transmission [ 13 , 14 , 15 , 16 ]. However, the gender and the DM1 phenotype of the transmitting parent have not been specifically studied in relation to Korean DM1.…”

Section: Introductionmentioning

confidence: 99%

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

Han

Jang

Park

2022

Genes

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Myotonic dystrophy type 1 (DM1) is the most common autosomal-dominant disorder caused by the CTG repeat expansion of the DMPK, and it has been categorized into three phenotypes: mild, classic, and congenital DM1. Here, we reviewed the intergenerational influence of gender and phenotype of the transmitting parent on the occurrence of Korean DM1. A total of 44 parent–child pairs matched for the gender of the transmitting parent and the affected child and 29 parent–child pairs matched for the gender and DM1 phenotype of the transmitting parent were reviewed. The CTG repeat size of the DMPK in the affected child was found to be significantly greater when transmitted by a female parent to a female child (DM1-FF) (median, 1309 repeats; range, 400–2083) than when transmitted by a male parent to a male child (650; 160–1030; p = 0.038 and 0.048 using the Tukey HSD and the Bonferroni test) or by a male parent to a female child (480; 94–1140; p = 0.003). The difference in the CTG repeat size of the DMPK between the transmitting parent and the affected child was also lower when transmitted from a male parent with classic DM1 (−235; −280 to 0) compared to when it was transmitted from a female parent with mild DM1 (866; 612–905; p = 0.015 and 0.019) or from a female parent with classic DM1 (DM1-FC) (605; 10–1393; p = 0.005). This study highlights that gender and the DM1 phenotype of the transmitting parent had an impact on the CTG repeat size of the DMPK in the affected child, with greater increases being inherited from the DM1-FF or DM1-FC situations in Korean DM1.

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High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study

Cited by 18 publications

References 39 publications

Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin

Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin

Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

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