VOLFRAM VA ALSTROM SINDROMLARINING QIYOSIY TAHLILI
##article.subject##:
qandli diabet, sensonevral eshitish qobiliyatining pasayishi, ko‘rishning yomonlashuvi, multisistem kasalliklar##article.abstract##
Volfram sindromi va Alstrom sindromi — kam uchraydigan monogen autosomal-retsessiv, ko‘p tizimli kasalliklar bo‘lib, ular bolalik yoki o‘smirlik davrida namoyon bo‘ladi. Ba’zi klinik belgilari o‘xshashligiga (masalan, erta boshlanuvchi qandli diabet, ko‘rish va eshitishning progresiv yomonlashuvi) qaramay, ushbu sindromlar turli xil genetik sabablar, patogenez, kechish va prognozga ega. Ushbu maqolada ushbu ikki sindromning qiyosiy tahlili keltiriladi.
Библиографические ссылки
Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK national study of Wolfram (DIDMOAD) syndrome. Lancet 1995, 346, 1458–1463.
Strom TM, Hörtnagel K, Hofmann S, et al. Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD): a neurodegenerative disorder caused by mutations in a novel gene (WFS1) encoding a predicted transmembrane protein // Human Molecular Genetics. 1998;7(13):2021–2028. DOI: 10.1093/ hmg /7.13.2021.
Shembesh NM, Sehgal KC, El Mauhoub M, Elzouki AA. DIDMOAD
syndrome in a Libyan family. Annals of Tropical Paediatrics. 1986. 6 (1), 47–50. https://doi.org/10.1080/02724936.1986.11748410
Farmer A, Ayme S, de Heredia ML, et al. Euro-WABB : an eu rare diseases
registry for Wolfram syndrome, alstrom syndrome and Bardet-Biedl syndrome. BMC Pediatr . 2013;13(1):130.
Marshall JD, Maffei P, Beck S, Barrett TG, Paisey R, Naggert JK. Clinical utility gene card for: Alstrom Syndrome - update 2013. Eur J Hum Genet. 2013; 21(11).
Bdier AY, Al-Qahtani FA, Kumar Verma P, Alshoaibi NA, Mohammed Alrayes N, Shaik NA, Foo RSY, Bhuiyan ZA, Al-Aama JY. A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients. Arch Med Sci. 2020; 100635.
Koray F, Dorter C, Benderli Y, Satman I, Yilmaz T, Dinccag N, Karsidag K. Alstrom syndrome: a case report. J Oral Sci. 2001; 43:221-224.
Alimadadi A, Ebrahim-Habibi A, Abbasi F, Amoli M, Sayahpour FA, Larijani B. Novel mutations of wolframin : a report with a look at the protein structure. Clin Genet. 2011 Jan;79(1):96-9. doi : 10.1111/j.1399-0004.2010. 01511.x. PMID: 21143470
Amr S, Heisey C, Zhang M, et al. A homozygous mutation in a novel zincfinger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007;81(4):673-683. DOI: 10.1086/520961.
de Heredia ML, Clèries R, Nunes V. Genotypic classification of patients with Wolfram syndrome: Insights into the natural history of the disease and correlation with phenotype. Genet Med. 2013;15(7):497-506.
Inoue H, Tanizawa Y, Wasson J, et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) // Nature Genetics. 1998;20(2):143–148. DOI: 10.1038/2441.
Delvecchio M, Iacoviello M, Pantaleo A, Resta N. Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations. Int. J. Environ. Res. Public Health 2021, 18, 4796. https://doi.org/10.3390/ijerph18094796
Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.NatGenet. 2002;31:74-78.
Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet. 2002;31:79-83., 10-Knorz VJ, Spalluto C, Lessard M, Purvis TL, Adigun FF, Collin GB, Hanley NA, Wilson DI, Hearn T. Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. Mol Biol Cell. 2010; 21:3617-3629.
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia. Hum Mutat. 2017; 38:764-777.
Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK. Alström Syndrome: Mutation Spectrum of ALMS1. Hum Mutat. 2015; 36:660-668.,
Álvarez-Satta M, Castro-Sánchez S, Valverde D. Alström syndrome: current perspectives. Appl Clin Genet. 2015; 8:171-179
Amylyx Pharmaceuticals. Phase 2 HELIOS Trial Results: AMX0035 improves glycemic and visual outcomes in Wolfram syndrome. Business Wire, Oct 17 2024
Amylyx Pharmaceuticals. HELIOS trial design and safety overview. Business Wire Apr 13 2023
PubMed. Neuro‑ophthalmological manifestations of Wolfram syndrome: case series and review, 2022
Wikipedia. Alström syndrome summary and clinical features. Accessed 2025
Rigoli, L.; Caruso, V.; Salzano, G.; Lombardo, F. Wolfram Syndrome 1: From Genetics to Therapy. Int. J. Environ. Res. Public Health 2022, 19, 3225
Marshall, J.D.; Beck, S.; Maffei, P.; Naggert, J.K. Alström Syndrome. Eur. J. Hum. Genet., 2007, 15, 1193-1202
Monogenic and syndromic diabetes due to ER stress, 2020
Urano, F. et al. (2023). Combination therapy with taurursodiol and sodium phenylbutyrate improves ER and mitochondrial dysfunction in Wolfram syndrome. JCI Insight. [https://doi.org/10.1172/jci.insight.167972]
ClinicalTrials.gov. (2024). HELIOS: Phase 2 Trial of AMX0035 in Wolfram Syndrome (NCT05676034). https://clinicaltrials.gov/study/NCT05676034
Amylyx Pharmaceuticals. Long-term Phase 2 HELIOS data through Week 48. Press release Apr 2025
NeurologyLive. AMX0035 improves pancreatic function in WS: Phase 2 results. Apr 2024
Caruso V, Raia A, Rigoli L. Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease. Genes 2024, 15, 984. https://doi.org/10.3390/genes15080984
Marshall JD, Maffei P, Collin GB, Naggert JK. Alstrom syndrome: genetics and clinical overview. Curr Genomics. 2011; 12:225-235
