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Disturbed glucose metabolism and mechanisms in Alström syndrome

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理解问题Disturbed glucose metabolism and mechanisms in Alström syndrome

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Alström syndrome (AS) is a rare genetic disorder that affects multiple systems in the body, including the eyes, ears, and metabolic system. One of the key features of this syndrome is disturbed glucose metabolism, which is intricately linked to the disease's pathophysiology.

Glucose Metabolism in Alström Syndrome

Patients with Alström syndrome exhibit significant glucose intolerance, which is observed even before the onset of other metabolic diseases5. This early manifestation of glucose intolerance suggests that there might be a primary defect in the metabolic mechanisms of individuals with AS.

Mechanisms of Insulin Resistance

A major driver of systemic insulin resistance and metabolic dysregulation in Alström syndrome is the adipose tissue2. The ALMS1 gene, which when mutated causes AS, plays a crucial role in regulating glucose transport through the actin cytoskeleton4. This gene is particularly important for insulin-stimulated GLUT4 transport, a key process in maintaining glucose homeostasis. The extreme insulin resistance (IR) and β-cell failure observed in AS patients are linked to these genetic mutations.

Role of Primary Cilium

The primary cilium, a cellular structure involved in various signaling pathways, has a significant role in energy homeostasis6. Mutations affecting the ciliary structure or function can lead to metabolic disorders, as seen in Alström syndrome. The severity of insulin resistance in AS increases with age and body habitus, yet it is disproportionate to the body mass index (BMI), indicating that factors beyond adiposity contribute to the metabolic complications7.

Dietary Responses and Metabolic Planning

Understanding the responses to fat and carbohydrate ingestion is vital for planning dietetic advice for individuals with Alström syndrome8. This knowledge can help elucidate the mechanisms behind the metabolic disorder and guide the development of personalized nutritional strategies to manage glucose metabolism.

In summary, Alström syndrome is characterized by disturbed glucose metabolism due to mutations in the ALMS1 gene, which affects insulin-stimulated glucose transport and leads to systemic insulin resistance. The primary cilium's role in energy homeostasis is compromised, and the severity of insulin resistance is influenced by factors beyond adiposity. Tailoring dietary responses to the individual's metabolic needs is crucial for managing the disease's metabolic complications.

Alström syndrome与胰岛素抵抗的关联是什么?

Alström syndrome(Alström综合征)是一种罕见的多系统遗传性疾病,其特征之一就是胰岛素抵抗。胰岛素抵抗是指在正常的血浆胰岛素水平下,靶组织无法形成正常的协同降糖作用,包括抑制内源性葡萄糖生成、抑制脂肪分解、促进细胞摄取葡萄糖等[40]。Alström综合征患者几乎普遍存在胰岛素抵抗,并且胰岛素抵抗并发症的严重程度随年龄的增加而增加,但与BMI不完全匹配[10]。此外,Alström综合征患者的代谢异常与肥胖有关,而肥胖是导致胰岛素抵抗的一个重要因素[1][2]。

ALMS1基因突变如何影响葡萄糖运输?

ALMS1基因突变影响葡萄糖运输的机制主要与其在调节细胞骨架中的作用有关。ALMS1通过肌动蛋白细胞骨架调节葡萄糖转运,肌动蛋白细胞骨架在胰岛素刺激的GLUT4转运中起重要作用[25]。由于ALMS1基因突变,这种调节作用受损,导致葡萄糖运输异常,进而引发胰岛素抵抗和糖尿病等代谢问题[4][25]。

Alström syndrome患者的饮食建议有哪些?

Alström syndrome患者的饮食建议需要考虑到他们的代谢异常和胰岛素抵抗问题。根据研究,对脂肪和碳水化合物摄入的反应在规划饮食建议时非常重要,这可能有助于解释代谢紊乱的机制[8]。此外,由于Alström综合征患者普遍存在肥胖问题,因此饮食建议可能还需要包括控制总热量摄入,选择低糖、高纤维的食物,以及增加富含不饱和脂肪酸的食物摄入,以帮助改善代谢状况和控制体重。

Alström syndrome的代谢异常与BMI的关系如何?

Alström syndrome的代谢异常与BMI之间存在一定的关联,但并不完全匹配。虽然Alström综合征患者普遍存在肥胖问题,但研究发现,即使在BMI相似的情况下,Alström综合征患者的代谢异常和胰岛素抵抗问题可能更为严重[7][10]。此外,代谢异常的严重程度和并发症的增加与年龄和身体形态有关,但与BMI不成比例[7]。

Alström syndrome的并发症随年龄增长如何变化?

Alström syndrome的并发症随年龄增长而变化,其严重程度和程度增加。特别是,胰岛素抵抗和代谢异常的并发症会随着年龄的增长而变得更加严重[7][10]。此外,Alström综合征患者发生代谢综合征的风险是健康人群的10倍,多数患者会发生2型糖尿病和中重度血脂异常[10]。然而,具体的并发症发展情况可能因个体差异而异,需要根据患者的具体情况进行评估和监测。

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相关内容16

Alström Syndrome as a multisystemic genetic disorder1

Alström综合征定义 罕见的多系统遗传性疾病,包括视锥杆营养不良、听力损失、肥胖和胰岛素抵抗。

Adipose tissue's role in Alström syndrome2

脂肪组织与胰岛素抵抗 脂肪组织是Alström综合征中系统性胰岛素抵抗和代谢紊乱的主要驱动因素。

ALMS1 mutations causing Alström syndrome3

ALMS1基因突变 导致Alström综合征的罕见遗传疾病,特征为身材矮小、视力和听力损失。

ALMS1's regulation of glucose transport4

ALMS1调节葡萄糖运输 ALMS1通过肌动蛋白细胞骨架调节葡萄糖运输,对胰岛素刺激的GLUT4运输至关重要。

Glucose intolerance in Alms1 GT/GT mice5

Alms1基因型小鼠的葡萄糖不耐受 观察到Alms1 GT/GT小鼠在代谢疾病之前有强烈的葡萄糖不耐受。

The role of primary cilium in energy homeostasis6

原纤毛在能量稳态中的作用 原纤毛在能量稳态中具有重要作用,影响Alström综合征的代谢机制。

Complications of insulin resistance in Alström syndrome7

胰岛素抵抗并发症 Alström综合征患者胰岛素抵抗的严重程度和并发症随年龄和体形增加,与BMI不成比例。

Alström Syndrome1

罕见遗传病 多系统受累,包括视听力障碍和代谢异常。

ALMS13

基因突变 导致Alström综合征,影响葡萄糖运输和胰岛素刺激。

Alms1 GT/GT mice5

模型研究 观察到在代谢疾病前出现强烈的葡萄糖不耐受。

The primary cilium6

细胞器功能 在能量平衡中起重要作用,突变影响代谢机制。

Patients with ALMS7

患者群体 胰岛素抵抗和代谢紊乱随年龄和体重增加而加剧。

Alström Syndrome patients1

Alström Syndrome Overview Patients with this rare genetic disorder experience multisystemic issues including vision and hearing loss.

Francesca Dassie, Francesca Favaretto, Silvia Bettini, Matteo Parolin, Marina Valenti, Felix Reschke4

Researchers on ALMS1 and Glucose Transport These authors contributed to understanding ALMS1's role in glucose transport and insulin resistance in Alström syndrome.

Alms1 GT/GT mice5

Mouse Model for Alström Syndrome Used to study glucose intolerance and metabolic disease mechanisms in Alström syndrome.

Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joa7

Experts on Alström Syndrome Complications They discussed the severity of insulin resistance and its complications in Alström syndrome patients.

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