LOM type hereditary motor and sensory Neuropathy

Also Known As:

Neuropathy, hereditary motor and sensory, LOM type; CMT4D; Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d; Charcot-Marie-Tooth Disease, Type 4D; Charcot-Marie-Tooth Neuropathy, Type 4d; HMSN4D; HMSNL; Hereditary motor and sensory neuropathy, LOM type

Networked: 13 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease)
2.	Neoplasms (Cancer)
3.	Type 4C Charcot-Marie-Tooth disease
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	1 X-linked Charcot-Marie-Tooth disease

Experts

1.	Hunter, Michael: 3 articles (01/2013 - 08/2003)
2.	Kalaydjieva, Luba: 3 articles (01/2013 - 08/2003)
3.	Angelicheva, Dora: 2 articles (01/2013 - 07/2005)
4.	Kokame, Koichi: 2 articles (07/2011 - 02/2008)
5.	Miyata, Toshiyuki: 2 articles (07/2011 - 02/2008)
6.	Okuda, Tomohiko: 2 articles (07/2011 - 02/2008)
7.	Kremensky, Ivo: 2 articles (07/2005 - 08/2003)
8.	Tournev, Ivailo: 2 articles (07/2005 - 08/2003)
9.	Thomas, P K: 2 articles (08/2003 - 07/2000)
10.	Holla, Vikram V: 1 article (07/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to LOM type hereditary motor and sensory Neuropathy:

1.	Proteins (Proteins, Gene)FDA Link 07/01/2022 - "This insertion is predicted to disrupt an alpha helix which is involved in protein-protein interactions in homologous proteins. Our study expands the clinical and genetic spectrum of CMT4D. " 08/01/2003 - "In a previous study, we have shown that N-myc downstream-regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal-response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot-Marie-Tooth (CMT) disease. "
2.	Heavy MetalsIBA 08/01/2003 - "In a previous study, we have shown that N-myc downstream-regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal-response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot-Marie-Tooth (CMT) disease. "
3.	NucleotidesIBA 01/01/2020 - "In this study, we aimed to identify p.R148X mutation in NDRG1 gene and p.R1109X mutation in SH3TC2 gene (responsible for CMT4D and CMT4C, respectively) and to investigate other possible nucleotide changes in exon 14 of SH3TC2 gene and exon 7 of NDRG1 gene in an Iranian population. "
4.	Nonsense Codon (Nonsense Mutation)IBA 07/01/2000 - "Sequence analysis of two genes located in the critical region identified the founder HMSNL mutation: a premature-termination codon at position 148 of the N-myc downstream-regulated gene 1 (NDRG1). " 07/22/2011 - "This condition was consistent with human hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease type 4D, caused by a nonsense mutation of NDRG1. " 02/01/2008 - "A nonsense mutation in the NDRG1 gene causes hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease type 4D. " 01/01/2002 - "A nonsense mutation in the NDRG1 gene has been reported to be causative for hereditary motor and sensory neuropathy-Lom (HMSNL), indicating that NDRG1 functions in the peripheral nervous system necessary for axonal survival. "
5.	LipidsIBA 09/01/2013 - "The deficiency of functional NDRG1 in CMT4D might impair lipid processing and differentiation of myelinating cells. " 07/15/2005 - "Further analyses, focusing on apolipoproteins A-I and A-II, confirmed their interaction with NDRG1 in mammalian cells and suggest a defect in Schwann cell lipid trafficking as a major pathogenetic mechanism in HMSNL. "
6.	RNA Splice SitesIBA 08/01/2003 - "Sequence analysis of NDRG1 in 104 CMT patients of diverse ethnicity identified one novel disease-causing mutation, IVS8-1G>A (g.2290787G>A), which affects the splice-acceptor site of IVS8 and results in the skipping of exon 9. The phenotype of the IVS8-1G>A homozygote was very closely related to that of HMSNL patients. "
7.	Neuregulin-1 (Neuregulin 1)IBA 01/01/2022 - "In conclusion, our data suggest that the demyelinating phenotype of CMT4D disease is at least in part a consequence of molecular defects in neuregulin 1/ErbB signaling."
8.	Genetic Markers (Genetic Marker)IBA 01/01/2020 - "Regarding the association of SNP rs1025476 with CMT4D, further assessments are needed to reach a better understanding of genetic markers and their genetic features and to propose better diagnostic and treatment plans for the Iranian population."
9.	Apolipoproteins AIBA 07/15/2005 - "Further analyses, focusing on apolipoproteins A-I and A-II, confirmed their interaction with NDRG1 in mammalian cells and suggest a defect in Schwann cell lipid trafficking as a major pathogenetic mechanism in HMSNL. "
10.	AndrogensIBA 12/01/2006 - "In addition, Ndrg-1 expression can be regulated by androgens and is involved in the pathology of the disease, Hereditary Motor and Sensory Neuropathy-Lom (HMSNL). "