A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.
MME
CMT2
Distal hereditary motor neuropathies
Late-onset
Peptidase M13 domain
Journal
BMC medical genomics
ISSN: 1755-8794
Titre abrégé: BMC Med Genomics
Pays: England
ID NLM: 101319628
Informations de publication
Date de publication:
04 Sep 2024
04 Sep 2024
Historique:
received:
02
04
2024
accepted:
21
08
2024
medline:
5
9
2024
pubmed:
5
9
2024
entrez:
5
9
2024
Statut:
epublish
Résumé
Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous diseases and previous studies have reported that the compound heterozygous recessive MME variants cause dHMN. Our study found a novel homozygous MME variant and a reported compound heterozygous MME variant in two Chinese families, respectively. Next-generation sequencing and nerve conduction studies were performed for two probands. The probands in two families presented with the muscle weakness and wasting of both lower limbs and carried a c.2122 A > T (p.K708*) and c.1342 C > T&c.2071_2072delinsTT (p.R448*&p.A691L) variant, respectively. Prominently axonal impairment of motor nerves and slight involvement of sensory nerves were observed in nerve conduction study. Our study reported a "novel" nonsense mutation and a missense variant of autosomal recessive late-onset dHMN and reviewed reported MME variants associated with dHMN phenotype.
Identifiants
pubmed: 39232784
doi: 10.1186/s12920-024-01996-3
pii: 10.1186/s12920-024-01996-3
doi:
Substances chimiques
Codon, Nonsense
0
Neprilysin
EC 3.4.24.11
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
223Informations de copyright
© 2024. The Author(s).
Références
Rossor AM, et al. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry. 2012;83(1):6–14.
doi: 10.1136/jnnp-2011-300952
pubmed: 22028385
Frasquet M, Sevilla T. Hereditary motor neuropathies. Curr Opin Neurol. 2022;35(5):562–70.
pubmed: 35942667
Wu C, et al. Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy. Ann Clin Transl Neurol. 2022;9(5):633–43.
doi: 10.1002/acn3.51543
pubmed: 35297556
pmcid: 9082376
Matsas R, Kenny AJ, Turner AJ. The metabolism of neuropeptides. The hydrolysis of peptides, including enkephalins, tachykinins and their analogues, by endopeptidase-24.11. Biochem J. 1984;223(2):433–40.
doi: 10.1042/bj2230433
pubmed: 6149747
pmcid: 1144315
Cadoni A, et al. Expression of common acute lymphoblastic leukemia antigen (CD 10) by myelinated fibers of the peripheral nervous system. J Neuroimmunol. 1993;45(1–2):61–6.
doi: 10.1016/0165-5728(93)90164-T
pubmed: 8392520
Nalivaeva NN, Zhuravin IA, Turner AJ. Neprilysin expression and functions in development, ageing and disease. Mech Ageing Dev. 2020;192:111363.
doi: 10.1016/j.mad.2020.111363
pubmed: 32987038
pmcid: 7519013
Higuchi Y, et al. Mutations in MME cause an autosomal-recessive Charcot-Marie-tooth disease type 2. Ann Neurol. 2016;79(4):659–72.
doi: 10.1002/ana.24612
pubmed: 26991897
pmcid: 5069600
Depondt C, et al. MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurol Genet. 2016;2(5):e94.
doi: 10.1212/NXG.0000000000000094
pubmed: 27583304
pmcid: 4991603
Hong D, et al. Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy. Ann Clin Transl Neurol. 2019;6(9):1728–38.
doi: 10.1002/acn3.50868
pubmed: 31429185
pmcid: 6764622
Auer-Grumbach M, et al. Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016;99(3):607–23.
doi: 10.1016/j.ajhg.2016.07.008
pubmed: 27588448
pmcid: 5011077
Jamiri Z, et al. A nonsense mutation in MME gene associates with autosomal recessive late-onset Charcot-Marie-tooth disease. Mol Genet Genomic Med. 2022;10(5):e1913.
doi: 10.1002/mgg3.1913
pubmed: 35212467
pmcid: 9034668
Irobi J, et al. Unraveling the genetics of distal hereditary motor neuronopathies. Neuromol Med. 2006;8(1–2):131–46.
doi: 10.1385/NMM:8:1-2:131
Houlden H, et al. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. Neurology. 2008;71(21):1660–8.
doi: 10.1212/01.wnl.0000319696.14225.67
pubmed: 18832141
Solla P, et al. Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-tooth and distal hereditary motor neuropathy. J Neurol Neurosurg Psychiatry. 2010;81(9):958–62.
doi: 10.1136/jnnp.2009.181636
pubmed: 20660910
Du K, et al. Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-tooth disease type 2. Clin Neuropathol. 2021;40(3):142–9.
doi: 10.5414/NP301323
pubmed: 33155544
He J, et al. An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report. Amyotroph Lateral Scler Frontotemporal Degener. 2022;23(1–2):149–53.
doi: 10.1080/21678421.2021.1918722
pubmed: 34615428
Feng SY, et al. A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy. Ann Clin Transl Neurol. 2019;6(2):401–5.
doi: 10.1002/acn3.701
pubmed: 30847374
Oefner C, et al. Structure of human neutral endopeptidase (Neprilysin) complexed with phosphoramidon. J Mol Biol. 2000;296(2):341–9.
doi: 10.1006/jmbi.1999.3492
pubmed: 10669592
Skidgel RA, et al. Hydrolysis of substance p and neurotensin by converting enzyme and neutral endopeptidase. Peptides. 1984;5(4):769–76.
doi: 10.1016/0196-9781(84)90020-2
pubmed: 6208535
Fischer HS, et al. Alterations within the endogenous opioid system in mice with targeted deletion of the neutral endopeptidase (‘enkephalinase’) gene. Regul Pept. 2000;96(1–2):53–8.
doi: 10.1016/S0167-0115(00)00200-7
pubmed: 11102652
Krämer HH, et al. Increased pain and neurogenic inflammation in mice deficient of neutral endopeptidase. Neurobiol Dis. 2009;35(2):177–83.
doi: 10.1016/j.nbd.2008.11.002
pubmed: 19084065
Iwata N, et al. Identification of the major Abeta1-42-degrading catabolic pathway in brain parenchyma: suppression leads to biochemical and pathological deposition. Nat Med. 2000;6(2):143–50.
doi: 10.1038/72237
pubmed: 10655101
Zhang H, et al. Meta-analysis of expression and function of neprilysin in Alzheimer’s disease. Neurosci Lett. 2017;657:69–76.
doi: 10.1016/j.neulet.2017.07.060
pubmed: 28778804
Walther T, et al. Improved learning and memory in aged mice deficient in amyloid beta-degrading neutral endopeptidase. PLoS ONE. 2009;4(2):e4590.
doi: 10.1371/journal.pone.0004590
pubmed: 19240795
pmcid: 2643003
Baranello RJ, et al. Amyloid-beta protein clearance and degradation (ABCD) pathways and their role in Alzheimer’s disease. Curr Alzheimer Res. 2015;12(1):32–46.
doi: 10.2174/1567205012666141218140953
pubmed: 25523424
pmcid: 4820400