Carriers of autosomal recessive conditions: are they really ‘unaffected?’

苯丙氨酸羟化酶 半乳糖血症 等位基因 表型 先天性代谢错误 苯丙酮尿症 遗传学 优势(遗传学) 疾病 生物 同型半胱氨酸尿 人口 医学 内分泌学 苯丙氨酸 内科学 基因 生物化学 蛋氨酸 环境卫生 氨基酸 半乳糖
作者
Anna Hames,Sophia Khan,Charles A. Gilliland,Leon Goldman,Huey‐Ming Lo,Ksenija Magda,Justine Horne
出处
期刊:Journal of Medical Genetics [BMJ]
卷期号:61 (1): 1-7 被引量:3
标识
DOI:10.1136/jmg-2023-109563
摘要

Mendel’s Law of Dominance suggests that recessive disease expression requires the inheritance of two mutated alleles as the dominant, wildtype allele suppresses disease presentation leading to the expression of physiological normal phenotypes. However, there is existing evidence that challenges this school of thought. Here, we summarise existing literature evaluating metabolic and health impacts among carriers of autosomal recessive conditions, focusing on phenylketonuria (PKU), classical homocystinuria, galactosemia and Usher syndrome as examples. Our findings suggest that carriers, often described as ‘unaffected’, may actually display attenuated symptoms for the recessive disease they are carrying. For instance, PKU is an inborn error of metabolism characterised by the build-up of plasma phenylalanine attributed to the deficiency of the phenylalanine hydroxylase (PAH) enzyme. While less severe, PKU carriers also exhibit this impaired enzymatic activity, leading to elevated plasma phenylalanine levels, especially after phenylalanine consumption. Related to these metabolic alterations in the PAH pathway, there is early evidence to suggest that PKU carriers may have compromised cognitive and mental health outcomes. Overall, research on the health and metabolic impacts of PKU carriers is sparse, with most studies conducted several decades ago. However, early evidence suggests that intermediate phenotypes among carriers of autosomal recessive conditions are plausible. The illustrated possible intermediate phenotypes observed among carriers necessitates future research to determine possible clinical implications among this population.
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