糖原的异常结构形式(具有较少分支点或支链淀粉样多糖),称为聚葡聚糖(PG),可能会积聚在各种组织中,例如横纹肌和平滑肌,大脑,神经,肝脏和皮肤,并导致一组九种不同的遗传性疾病,表现为主要影响神经系统的各种临床表型(Lafora病,成人PG身体疾病),心脏(糖原贮积病XV型,肥厚型心肌病6型,PG体肌病1型)和骨骼肌(糖原贮积病IV型,糖原贮积病VII型,PG体肌病2型),取决于主要受PG聚集体影响的器官。PG在组织中储存的病理特征是这些疾病的标志。全基因组测序已允许在大量患有先前未识别的疾病的患者中获得诊断。我们描述了临床,这些遗传疾病的病理和分子特征,其中许多已经研究了相应突变基因的病理机制,至少在某种程度上,理解。
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of nine different genetic disorders manifesting with a variety of clinical phenotypes that affect mainly the nervous system (Lafora disease, adult PG body disease), the heart (glycogen storage disease type XV, hypertrophic cardiomyopathy type 6, PG body myopathy type 1) and the skeletal muscle (glycogen storage disease type IV, glycogen storage disease type VII, PG body myopathy type 2), depending on the organs which are mostly affected by the PG aggregates. The pathological feature of PG storage in tissues is a hallmark of these disorders. Whole-genome sequencing has allowed to obtain a diagnosis in a large number of patients with a previously unrecognized disorder. We describe the clinical, pathological and molecular features of these genetic disorders, for many of which the pathological mechanisms underlying the corresponding mutant gene have been investigated and, at least in part, understood.