Dugo Ketty, Bruno Francesca, Sturiale Valentina, Brancato Desiree, Saccone Salvatore, Federico Concetta
Department Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy.
Biomedicines. 2022 Sep 25;10(10):2394. doi: 10.3390/biomedicines10102394.
Point mutations of the () gene are related with hereditary amyloidosis (hATTR). The number of people affected by this rare disease is only partially estimated. The real impact of somatic mosaicism and other genetic factors on expressivity, complexity, progression, and transmission of the disease should be better investigated. The relevance of this rare disease is increasing and many efforts have been made to improve the time to diagnosis and to estimate the real number of cases in endemic and non-endemic areas. In this context, somatic mosaicism should be better investigated to explain the complexity of the heterogeneity of the hATTR clinical features, to better estimate the number of new cases, and to focus on early and personalized gene therapy. Gene therapy can potentially improve the living conditions of affected individuals and is one of the central goals in research on amyloidosis related to the gene, with the advantage of overcoming liver transplantation as the sole treatment for hATTR disease.
（）基因的点突变与遗传性淀粉样变性（hATTR）相关。受这种罕见疾病影响的人数仅得到部分估计。体细胞镶嵌现象和其他遗传因素对该疾病的表达性、复杂性、进展和传播的实际影响应得到更好的研究。这种罕见疾病的相关性正在增加，人们已经做出了许多努力来缩短诊断时间，并估计地方病和非地方病地区的实际病例数。在这种情况下，应更好地研究体细胞镶嵌现象，以解释hATTR临床特征异质性的复杂性，更好地估计新病例数，并专注于早期和个性化基因治疗。基因治疗有可能改善受影响个体的生活条件，是与该基因相关的淀粉样变性研究的核心目标之一，其优势在于克服了肝移植作为hATTR疾病唯一治疗方法的局限性。
