A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant

Table 3

Protein variations as derived from the examined RTT sister pairs and healthy controls comparative analyses.

Analytical groups	Plasma proteome differences
	Quantitative variations		Qualitative variations
	Underexpressed	Overexpressed	Disappearance	Appearance
Classical RTT^(2) versus PSV-RTT^(2)	N.D.	↑ AMBP*, ↑ HPT*, ↑ FIBB*, ↑ CO3*, ↑ TTHY*	N.D.	A1AT
RTT^(4) versus controls^(10)	↓ HPT, ↓ FIBB, ↓ HBB, ↓ IGHG2, ↓ TRFE, ↓ CO3	↑ CLUS	N.D.	N.D.
RTT sisters Family 1^(2) versus RTT sisters Family 2^(2)	↓ TTHY	↑ HBB	N.D.	+ALBU
No. 1 classical RTT^(1) versus no. 3 classical RTT^(1)	↓ AMBP, ↓ CLUS, ↓ IGHG2, ↓ TTHY	N.D.	N.D.	+ALBU, +HBB, +A1AT
No. 2 PSV-RTT^(1) versus no. 4 PSV-RTT^(1)	N.D.	↑ HPT	−HBB, −TTHY	+AMBP, +CLU, +ALBU, +IGJ, +CO3

↓: protein spot underexpressed; ↑: protein spot overexpressed; −: protein spot disappearance; +: protein spot appearance; N.D.: not detectable; *changes referred to relative variations between classical RTT and PSV-RTT siblings.
A1AT: alpha-1-antitrypsin; AMBP: alpha-1-microglobulin; ALBU: albumin; CLUS: clusterin; CO3: complement C3; FIBB: fibrinogen beta chain; HBB: hemoglobin subunit beta; HPT: haptoglobin; IGHG2: immunoglobulin gamma-2 chain C region; IGJ, immunoglobulin J chain; TRFE, serum transferrin; TTHY: transthyretin. Numbers in the parentheses indicate the number of patients or subjects compared.