MYOTONIC DYSTROPHY 1; DM1
Diseases

Author: Gianpiero Pescarmona
Date: 28/02/2019

Description

DEFINITION

The disease definition according to a specific consensus conference or to The Diseases Database based on the Unified Medical Language System (NLM)

Myotonic dystrophy-1 (DM1) is caused by a heterozygous trinucleotide repeat expansion (CTG)n in the 3-prime untranslated region of the dystrophia myotonica protein kinase gene (DMPK; 605377) on chromosome 19q13.

A repeat length exceeding 50 CTG repeats is pathogenic.

Also the link to the corresponding Mesh term has to be created

DatabaseLink
WikipediaFabry
The Diseases DatabaseURL
MedlinePlus"URL":
Orphanet"Disease":
OMIM single geneMYOTONIC DYSTROPHY 1; Steinert
WikigenesAGAL
GeneCards"AGAL":
Kegg PathwayAGAL

Se ci sono piu' voci su OMIM usare questo formato di ricerca:

Autism

EPIDEMIOLOGY

age, sex, seasonality, etc

SYMPTOMS

Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1 2008

DIAGNOSIS

histopathology
radiology
NMR
laboratory tests

PATHOGENESIS

DEFINITION

DMPK

THE GENE

DatabaseLink
HGNCACADM
Uniprot"URL":

CHEMICAL STRUCTURE AND IMAGES

When relevant for the function

  • Primary structure
  • Secondary structure
  • Tertiary structure
  • Quaternary structure

Protein Aminoacids Percentage (Width 700 px)

SYNTHESIS AND TURNOVER

mRNA synthesis

protein synthesis

post-translational modifications
degradation

CELLULAR FUNCTIONS

cellular localization,
biological function

Myotonic_dystrophy_Candidate_small_molecule_therapeutics, 2017

  • Enzymes
DatabaseLink
BRENDA - The Comprehensive Enzyme Information System"URL":
KEGG Pathways"URL":
Human Metabolome Database"URL":
  • Cell signaling and Ligand transport
  • Structural proteins

REGULATION

DIAGNOSTIC USE

PATIENT RISK FACTORS

Vascular

Genetic

Acquired

Hormonal

Glucocorticoid metabolism and adrenocortical reactivity to ACTH in myotonic dystrophy. 2001

  • Abstract
    Dysfunction of the hypothalamic-pituitary-adrenal axis might contribute to metabolic disturbances frequently encountered in myotonic dystrophy. We hypothesized that abnormal adrenocortical sensitivity to ACTH and/or glucocorticoid metabolism could be important in myotonic dystrophy. We assessed diurnal rhythmicity of saliva cortisol, adrenocortical reactivity by a low-dose (1 microg) Synacthen test, and glucocorticoid metabolism in blood and urine in 42 myotonic dystrophy patients (22 males) and 50 controls (27 males). CTG triplet repeat expansions were quantified by Southern blot. Diurnal rhythmicity of saliva cortisol was flattened in both men and women with myotonic dystrophy, with significantly increased afternoon/evening levels (P < 0.013). The cortisol response to ACTH was associated with increased (CTG)(n) expansions in myotonic dystrophy men and women (P < 0.01). Male myotonic dystrophy patients also had increased activation of cortisol from cortisone by 11beta-hydroxysteroid dehydrogenase type 1. Both men and women with myotonic dystrophy had an increased 5alpha/5beta-reductase ratio (P < 0.05 and P < 0.01, respectively). Cortisol metabolites were related to the genetic defect in myotonic dystrophy men (P < 0.05), whereas ratios reflecting 11beta-hydroxysteroid dehydrogenase type 1 activity in myotonic dystrophy women were positively associated with obesity (P < 0.05). Increased 11beta-hydroxysteroid dehydrogenase type 1 activity and adrenocortical reactivity to ACTH are related to the genetic defect in myotonic dystrophy men, whereas abnormal glucocorticoid metabolism is associated with alterations in body composition in female myotonic dystrophy patients. These disturbances may explain altered circulating cortisol levels and contribute to features of the metabolic syndrome in myotonic dystrophy.

Genetic

Acquired

TISSUE SPECIFIC RISK FACTORS

anatomical (due its structure)

vascular (due to the local circulation)

physiopathological (due to tissue function and activity)

COMPLICATIONS

THERAPY

Myotonic Dystrophy Type 1 (DM1): From the Genetics to Molecular Mechanisms, 2012

Attachments
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Steinert_ch1.gifgp28/02/2019
Steinert_ch2.gifgp28/02/2019
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