Type 1D Limb-Girdle Muscular Dystrophy

mutation in DNAJB6

Also Known As:

Muscular Dystrophy, Limb-Girdle, Type 1D; LGMD1D

Networked: 12 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Atrophic Muscular Disorders: 320
    - Muscular Dystrophies: 5779
      - Limb-Girdle Muscular Dystrophies: 800
        Type 1D Limb-Girdle Muscular Dystrophy: 12
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Atrophic Muscular Disorders: 320
      - Muscular Dystrophies: 5779
        Limb-Girdle Muscular Dystrophies: 800
        Type 1D Limb-Girdle Muscular Dystrophy: 12
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Muscular Dystrophies: 5779
    - Limb-Girdle Muscular Dystrophies: 800
      - Type 1D Limb-Girdle Muscular Dystrophy: 12

Related Diseases

1.	Type 1E Limb-Girdle Muscular Dystrophy
2.	Type 1F Limb-Girdle Muscular Dystrophy
3.	Type 1C Limb-Girdle Muscular Dystrophy
4.	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
5.	type 1B Limb-girdle muscular dystrophy

Experts

1.	Bengoechea, Rocio: 3 articles (04/2019 - 07/2014)
2.	True, Heather L: 3 articles (04/2019 - 07/2014)
3.	Weihl, Conrad C: 3 articles (04/2019 - 07/2014)
4.	Pittman, Sara K: 2 articles (04/2019 - 12/2015)
5.	Huovinen, Sanna: 2 articles (02/2016 - 02/2012)
6.	Palmio, Johanna: 2 articles (02/2016 - 02/2012)
7.	Raheem, Olayinka: 2 articles (02/2016 - 02/2012)
8.	Sandell, Satu: 2 articles (02/2016 - 02/2012)
9.	Udd, Bjarne: 2 articles (02/2016 - 02/2012)
10.	Maggi, Lorenzo: 2 articles (01/2016 - 07/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 1D Limb-Girdle Muscular Dystrophy:

1.	Proteins (Proteins, Gene)FDA Link 02/05/2016 - "LGMD1D is caused by mutated DNAJB6 and the molecular pathogenesis is mediated by defective chaperonal function leading to impaired handling of misfolded proteins which normally would be degraded. " 12/01/2015 - "LGMD1D muscle has rimmed vacuoles and inclusion bodies containing DNAJB6, Z-disc proteins and TDP-43. " 07/25/2014 - "We propose that such selective chaperone disruption may lead to the accumulation of toxic aggregate conformers and result in the development of LGMD1D and perhaps other protein conformational disorders." 07/25/2014 - "Additionally, we analyzed the effect of LGMD1D-associated DNAJB6 mutations on TDP-43, a protein known to form inclusions in LGMD1D. " 07/25/2014 - "Here, we exploit the yeast HSP40 Sis1, which has known aggregation-prone client proteins, to gain insight into the role of the G/F domain and its significance in LGMD1D pathogenesis. "
2.	Lamin Type A (Lamin A)IBA 08/01/2014 - "Mutations are known for six among the eight mapped autosomal dominant forms: LGMD1A (myotilin), LGMD1B (lamin A/C), LGMD1C (caveolin-3), LGMD1D (desmin), LGMD1E (DNAJB6), and more recently for LGMD1F (transportin-3). " 05/01/2014 - "The dominant forms (LGMD1) are: LGMD1A (myotilin), LGMD1B (lamin A/C), LGMD1C (caveolin 3), LGMD1D (DNAJB6), LGMD1E (desmin), LGMD1F (transportin 3), LGMD1G (HNRPDL), LGMD1H (chr. " 12/01/2004 - "These conditions are caused by mutations in genes encoding for myotilin (5q31, LGMD1A), lamin A/C (1q11-q21.2, LGMD1B), caveolin-3 (3p25, LGMD1C), unknown proteins (7q, LGMD1D, 6q23, LGMD1E, 7q32.1-32.2., LGMD1F), calpain-3 (15q15.1-21.1, LGMD2A), dysferlin (2p13.3-13.1, LGMD2B), gamma-sarcoglycan (13q12, LGMD2C), alpha-sarcoglycan, also known as adhalin (17q12-q21.3, LGMD2D), beta-sarcoglycan (4q12, LGMD2E), delta-sarcoglycan (5q33-q34, LGMD2F), telethonin (17q11-q12, LGMD2G), E3-ubiquitin ligase (9q31-q34.1, LGMD2H), fukutin-related protein (19q13.3, LGMD2I), and titin (2q31, LGMD2J). "
3.	DesminIBA 01/01/2012 - "We used laser capture microdissection to isolate cytoplasmic inclusions from skeletal muscle from a patient with LGMD1D/1E, performed mass spectrometry-based proteomics on these minute inclusions, and identified through bioinformatics desmin as their major constituent. " 01/01/2012 - "Sequencing in this patient and family members identified the genetic basis of the previously reported 6q23 linked LGMD1D/1E to be due to an intron splice donor site mutation (IVS3+3A>G) of the desmin gene located on chromosome 2q35." 08/01/2014 - "Mutations are known for six among the eight mapped autosomal dominant forms: LGMD1A (myotilin), LGMD1B (lamin A/C), LGMD1C (caveolin-3), LGMD1D (desmin), LGMD1E (DNAJB6), and more recently for LGMD1F (transportin-3). " 05/01/2014 - "The dominant forms (LGMD1) are: LGMD1A (myotilin), LGMD1B (lamin A/C), LGMD1C (caveolin 3), LGMD1D (DNAJB6), LGMD1E (desmin), LGMD1F (transportin 3), LGMD1G (HNRPDL), LGMD1H (chr. "
4.	Caveolin 3IBA 05/01/2014 - "The dominant forms (LGMD1) are: LGMD1A (myotilin), LGMD1B (lamin A/C), LGMD1C (caveolin 3), LGMD1D (DNAJB6), LGMD1E (desmin), LGMD1F (transportin 3), LGMD1G (HNRPDL), LGMD1H (chr. " 12/01/2004 - "These conditions are caused by mutations in genes encoding for myotilin (5q31, LGMD1A), lamin A/C (1q11-q21.2, LGMD1B), caveolin-3 (3p25, LGMD1C), unknown proteins (7q, LGMD1D, 6q23, LGMD1E, 7q32.1-32.2., LGMD1F), calpain-3 (15q15.1-21.1, LGMD2A), dysferlin (2p13.3-13.1, LGMD2B), gamma-sarcoglycan (13q12, LGMD2C), alpha-sarcoglycan, also known as adhalin (17q12-q21.3, LGMD2D), beta-sarcoglycan (4q12, LGMD2E), delta-sarcoglycan (5q33-q34, LGMD2F), telethonin (17q11-q12, LGMD2G), E3-ubiquitin ligase (9q31-q34.1, LGMD2H), fukutin-related protein (19q13.3, LGMD2I), and titin (2q31, LGMD2J). "
5.	Protein Isoforms (Isoforms)IBA 12/01/2015 - "To identify which mutant isoform confers disease pathogenesis and generate a mouse model of LGMD1D, we evaluated DNAJB6 expression and localization in skeletal muscle as well as generating DNAJB6 isoform specific expressing transgenic mice. " 12/01/2015 - "Both isoforms contain LGMD1D mutant residues and are expressed in human muscle. " 02/26/2012 - "Our data identify the genetic cause of LGMD1D, suggest that its pathogenesis is mediated by defective chaperone function and highlight how mutations in a ubiquitously expressed gene can exert effects in a tissue-, isoform- and cellular compartment-specific manner."
6.	Amino Acids FDA Link 02/01/2020 - "Unlike previously reported cases where missense variants affecting the Phe91 amino acid residue are associated with a more severe form of the disease, this family represents the mild end of the LGMD1D clinical spectrum. " 07/25/2015 - "The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein. "
7.	Protein AggregatesIBA 01/01/2016 - "Mutations in the DNAJB6 gene have been associated with the autosomal dominant limb girdle muscular dystrophy type 1D (LGMD1D), a disorder characterized by abnormal protein aggregates and rimmed vacuoles in muscle fibers. "
8.	ConnectinIBA 12/01/2004 - "These conditions are caused by mutations in genes encoding for myotilin (5q31, LGMD1A), lamin A/C (1q11-q21.2, LGMD1B), caveolin-3 (3p25, LGMD1C), unknown proteins (7q, LGMD1D, 6q23, LGMD1E, 7q32.1-32.2., LGMD1F), calpain-3 (15q15.1-21.1, LGMD2A), dysferlin (2p13.3-13.1, LGMD2B), gamma-sarcoglycan (13q12, LGMD2C), alpha-sarcoglycan, also known as adhalin (17q12-q21.3, LGMD2D), beta-sarcoglycan (4q12, LGMD2E), delta-sarcoglycan (5q33-q34, LGMD2F), telethonin (17q11-q12, LGMD2G), E3-ubiquitin ligase (9q31-q34.1, LGMD2H), fukutin-related protein (19q13.3, LGMD2I), and titin (2q31, LGMD2J). "
9.	CateninsIBA 04/01/2019 - "In contrast, LGMD1D mutations in DNAJB6 enhance GSK3β activation and suppress β-catenin and NFAT3c signaling. "
10.	Sarcoglycans (beta Sarcoglycan)IBA 12/01/2004 - "These conditions are caused by mutations in genes encoding for myotilin (5q31, LGMD1A), lamin A/C (1q11-q21.2, LGMD1B), caveolin-3 (3p25, LGMD1C), unknown proteins (7q, LGMD1D, 6q23, LGMD1E, 7q32.1-32.2., LGMD1F), calpain-3 (15q15.1-21.1, LGMD2A), dysferlin (2p13.3-13.1, LGMD2B), gamma-sarcoglycan (13q12, LGMD2C), alpha-sarcoglycan, also known as adhalin (17q12-q21.3, LGMD2D), beta-sarcoglycan (4q12, LGMD2E), delta-sarcoglycan (5q33-q34, LGMD2F), telethonin (17q11-q12, LGMD2G), E3-ubiquitin ligase (9q31-q34.1, LGMD2H), fukutin-related protein (19q13.3, LGMD2I), and titin (2q31, LGMD2J). "

Therapies and Procedures

1.	Lasers (Laser) 01/01/2012 - "We used laser capture microdissection to isolate cytoplasmic inclusions from skeletal muscle from a patient with LGMD1D/1E, performed mass spectrometry-based proteomics on these minute inclusions, and identified through bioinformatics desmin as their major constituent. "