Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy

Table 1 Clinical and molecular characteristics mtDNA mutation carriers

Patient ID	Age	Sex	mtDNA mutation	% sk. muscle	% MABS	Clinical features
M1^a	37	M	tRNA Lys m.8363G>A	46	< 1	Mild EI, cephalia
M8^a	40	F		51	6.0	EI, ataxia, dysarthria
M18^a	35	F		87	78	Spinocerebellar ataxia with dysarthria
M20^a	47	F		90	82	EI, axonal polyneuropathy, dysarthria
M5^b	27	F	tRNA Leu m.3243A>G	40	9.4	EI, restless legs, cephalia (migraine like)
M6^b	21	M		93	3.4	MELAS, bradyphrenia, mental deterioration
M9^c	59	F		15	1.6	DM, hearing loss, cerebellar ataxia, slight mental deterioration
M10^c	33	F		28	< 1	Discrete cerebellar ataxia
M132	61	F		62	9.1	Cerebellar ataxia, hemianopsia, CVA hemiparesis right, motor aphasia, DM, EI, seizures
M133	38	F		73	5.5	DM, hearing aid, CMP, EI, migraine-like headaches, proximal weakness, reactive depression
M137	58	M		80	22	Deafness, EI, CVA, PNP, DM, hypertension, Dupuytren
M19	43	F		79	64	MIDD, anorexia
M32	40	M		80	67	MIDD, nephropathy, myopathy, HCM
M2	22	F	tRNA Leu m.3271 T>C	100	96	Myopathy, EI
M22^e	51	F	tRNA Leu m.3271 T>C	73	41	Headaches
M11^d	11	F	tRNA Leu m.3291 T>C	94	73	EI, CMP, myopathy
M17^d	34	F	tRNA Leu m.3291 T>C	62	1.6	EI, hearing loss, mental retardation
M34 ^f	63	M	ND1 m.11778G>A	89	68	LHON
M37^f	69	F	ND1 m.11778G>A	53	57	No complaints
M28	58	M	4977 bp deletion	ND	< 1	CPEO, myopathy, glaucoma, hearing loss, hypoventilation
M23	57	F	4977 bp deletion	41	< 1	CPEO/KSS, myopathy, swallowing problems, CMP, EI, PNP
M134	60	F	4977 bp deletion	60	< 1	CPEO, proximal discrete myopathy
M33	66	F	4977 bp deletion	45–50	< 1	CPEO, myopathy
M24	21	F	6 kb deletion	ND	< 1	CPEO, EI, dyspepsia, dysphagia
M07	42	M	3.5 kb deletion	60–70	< 1	CPEO/KSS, opticopathy, axonal motor polyneuropathy

Age age at muscle biopsy, % sk. muscle mean mtDNA mutation load in skeletal muscle, % MABs mean mtDNA mutation load in mesoangioblasts, DM diabetes mellitus, EI exercise intolerance, MELAS mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, MIDD maternally inherited diabetes and deafness, HCM hypertrophic cardiomyopathy, PNP polyneuropathy, CVA cerebrovascular accident, LHON Leber’s Hereditary Optic Neuropathy, CPEO chronic progressive external ophthalmology, KSS Kearns-Sayre syndrome, CMP cardiomyopathy, ND not determined
^aM8 and M20 are siblings and cousins of M1 and M18
^bM5 and M6 are siblings
^cM9 is mother of M10
^dM17 is mother of M11
^eM22 is mother of M02
^fM34 and M37 are siblings

ISSN: 1757-6512