Autophagy deficiency in neurodevelopmental disorders

Cell & Bioscience

Table 1 Genetic mutations of autophagy-related genes in neurodevelopmental disorders

Gene symbol	Protein	Autophagy involvement	Genetic variant	The effect of genetic variant	Neurodevelopmental disorder
MAP1LC3A, MAP1LC3B, GABARAP, GABARAPL1, GABARAPL2	MAP1LC3A, MAP1LC3B, GABARAP, GABARAPL1, GABARAPL2	Cargo recruitment	None	Loss of function in autophagy pathway	ASD [19]
VPS11	VPS11	Membrane trafficking and lysosome-endosome fusion	C846G	Loss of function in autophagy pathway	Genetic leukoencephalopathy [14]
ATG5	ATG5	Elongation	E122D	Lower levels of autophagy	Childhood ataxia [22]
ALFY	ALFY	Autophagy adaptor	R2637W	Loss of function in removal of aggregates	Primary microcephaly [23]
WIPI2	WIPI2	Nucleation	V249M	Reduced LC3 lipidation and autophagy level	Complex developmental disorder [23]
VPS15	VPS15	Nucleation	L1224R	Increased protein level of p62	Complex developmental disorder [27]
ATG7	ATG7	Elongation	R659*	Impairment in LC3 lipidation and autophagy flux	Complex developmental disorder [15]
			R576H
			H624Y
			P234T
			V588M
			Q261R
			G511D
			L512P

ISSN: 2045-3701